Variant report

Variant	nsv933424
Chromosome Location	chr13:52293482-52507732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5183)
CpG islands
(count:2627)
Chromatin interactive
region (count:273)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5183 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52338298-52338689	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:52377699-52377908	K562	blood:	n/a	n/a
3	ARID3A	chr13:52495897-52496511	K562	blood:	n/a	n/a
4	ARID3A	chr13:52360278-52360597	K562	blood:	n/a	n/a
5	ARID3A	chr13:52304102-52304367	HepG2	liver:	n/a	n/a
6	ARID3A	chr13:52322175-52322518	HepG2	liver:	n/a	n/a
7	ATF1	chr13:52430215-52430499	K562	blood:	n/a	n/a
8	ATF1	chr13:52377504-52378523	K562	blood:	n/a	n/a
9	ATF1	chr13:52495859-52496559	K562	blood:	n/a	n/a
10	ATF2	chr13:52378085-52378611	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:52367573-52368630	GM12878	blood:	n/a	n/a
12	ATF2	chr13:52377493-52378555	GM12878	blood:	n/a	chr13:52377912-52377923
13	ATF2	chr13:52338747-52339082	GM12878	blood:	n/a	n/a
14	ATF2	chr13:52371795-52372208	GM12878	blood:	n/a	n/a
15	ATF2	chr13:52371741-52372258	GM12878	blood:	n/a	n/a
16	ATF2	chr13:52483337-52483748	GM12878	blood:	n/a	n/a
17	ATF2	chr13:52367562-52368583	GM12878	blood:	n/a	n/a
18	ATF2	chr13:52378117-52378735	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr13:52377435-52378108	H1-hESC	embryonic stem cell:	n/a	chr13:52377912-52377923
20	ATF2	chr13:52377395-52378675	GM12878	blood:	n/a	chr13:52377912-52377923
21	ATF2	chr13:52338504-52339189	GM12878	blood:	n/a	n/a
22	ATF2	chr13:52371704-52372239	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr13:52371703-52372179	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr13:52378117-52378557	K562	blood:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
25	ATF3	chr13:52495902-52496545	K562	blood:	n/a	n/a
26	ATF3	chr13:52377813-52378432	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52378325-52378338 chr13:52378129-52378138 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52378134-52378154 chr13:52377912-52377925
27	ATF3	chr13:52367617-52368003	K562	blood:	n/a	n/a
28	ATF3	chr13:52435899-52436208	K562	blood:	n/a	n/a
29	ATF3	chr13:52377701-52378073	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52377912-52377925
30	ATF3	chr13:52377967-52378480	HepG2	liver:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
31	BACH1	chr13:52367629-52368133	K562	blood:	n/a	n/a
32	BACH1	chr13:52385138-52385165	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr13:52423875-52424132	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr13:52419103-52419620	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr13:52377614-52378338	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr13:52325359-52325366	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr13:52419156-52419166	K562	blood:	n/a	n/a
38	BACH1	chr13:52407961-52408002	K562	blood:	n/a	n/a
39	BACH1	chr13:52368442-52368613	K562	blood:	n/a	n/a
40	BACH1	chr13:52367680-52368031	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr13:52483440-52483801	GM12878	blood:	n/a	chr13:52483603-52483614
42	BATF	chr13:52483373-52483801	GM12878	blood:	n/a	chr13:52483603-52483614
43	BATF	chr13:52367657-52368346	GM12878	blood:	n/a	chr13:52367823-52367833
44	BATF	chr13:52376365-52376687	GM12878	blood:	n/a	n/a
45	BATF	chr13:52338360-52338662	GM12878	blood:	n/a	n/a
46	BATF	chr13:52386320-52386655	GM12878	blood:	n/a	n/a
47	BATF	chr13:52376333-52376661	GM12878	blood:	n/a	n/a
48	BATF	chr13:52367719-52368336	GM12878	blood:	n/a	chr13:52367823-52367833
49	BATF	chr13:52498143-52498360	GM12878	blood:	n/a	n/a
50	BATF	chr13:52482199-52482479	GM12878	blood:	n/a	chr13:52482318-52482327

(count:2627 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52436047-52436097	CMK	blood:	n/a
2	chr13:52419265-52419315	NT2-D1	testis:	n/a
3	chr13:52343307-52343357	SK-N-SH_RA	brain:	n/a
4	chr13:52378480-52378530	NHDF-neo	bronchial:	n/a
5	chr13:52436047-52436097	CMK	blood:	n/a
6	chr13:52419265-52419315	NT2-D1	testis:	n/a
7	chr13:52343307-52343357	SK-N-SH_RA	brain:	n/a
8	chr13:52378480-52378530	NHDF-neo	bronchial:	n/a
9	chr13:52305991-52306041	HEK293	kidney:	embryo
10	chr13:52375776-52375826	HUVEC	blood vessel:	n/a
11	chr13:52436281-52436331	HCM	heart:	n/a
12	chr13:52378287-52378337	T-47D	breast:	n/a
13	chr13:52419383-52419433	BE2_C	brain:	n/a
14	chr13:52378744-52378794	HEEpiC	esophagus:	n/a
15	chr13:52423122-52423172	GM12892	blood:	n/a
16	chr13:52301946-52301996	SK-N-SH_RA	brain:	n/a
17	chr13:52378294-52378344	PFSK-1	brain:	n/a
18	chr13:52377730-52377780	HCM	heart:	n/a
19	chr13:52378305-52378355	CMK	blood:	n/a
20	chr13:52378480-52378530	HCPEpiC	choroid plexus:	n/a
21	chr13:52378323-52378373	HRE	kidney:	n/a
22	chr13:52419358-52419408	HMEC	breast:	n/a
23	chr13:52419358-52419408	HNPCEpiC	eye:	n/a
24	chr13:52338758-52338808	Hepatocyte	liver:	n/a
25	chr13:52378530-52378580	IMR90	lung:	fetal
26	chr13:52436281-52436331	Hepatocyte	liver:	n/a
27	chr13:52301946-52301996	ProgFib	skin:	n/a
28	chr13:52381961-52382011	LNCaP	prostate:	n/a
29	chr13:52345302-52345352	T-47D	breast:	n/a
30	chr13:52377730-52377780	NHBE	bronchial:	n/a
31	chr13:52378339-52378389	HNPCEpiC	eye:	n/a
32	chr13:52342952-52343002	U87	brain:	n/a
33	chr13:52336040-52336090	SKMC	muscle:	n/a
34	chr13:52371236-52371286	NB4	blood:	n/a
35	chr13:52378287-52378337	GM06990	blood:	n/a
36	chr13:52378339-52378389	SAEC	small airway:	n/a
37	chr13:52305991-52306041	AG10803	skin:	n/a
38	chr13:52419380-52419430	GM12878	blood:	n/a
39	chr13:52423122-52423172	U87	brain:	n/a
40	chr13:52436281-52436331	A549	lung:	n/a
41	chr13:52305991-52306041	PANC-1	pancreas:	n/a
42	chr13:52375776-52375826	HCT-116	colon:	n/a
43	chr13:52342952-52343002	AG09309	skin:	n/a
44	chr13:52338758-52338808	RPTEC	kidney:	n/a
45	chr13:52419714-52419764	NT2-D1	testis:	n/a
46	chr13:52437322-52437372	HNPCEpiC	eye:	n/a
47	chr13:52419714-52419764	HNPCEpiC	eye:	n/a
48	chr13:52436047-52436097	HPAEpiC	pulmonary alveolar:	n/a
49	chr13:52419380-52419430	A549	lung:	n/a
50	chr13:52378305-52378355	HMEC	breast:	n/a

(count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr13:52494744..52497994-chr13:52498651..52501813,3	K562	blood:
2	chr13:52389100..52392374-chr13:52395474..52400602,4	MCF-7	breast:
3	chr13:52026095..52028925-chr13:52351602..52354285,2	K562	blood:
4	chr13:52376935..52378764-chr13:52436044..52437882,2	MCF-7	breast:
5	chr13:52389367..52389950-chr13:52418848..52419521,2	K562	blood:
6	chr13:52393921..52396482-chr13:52702108..52704380,2	K562	blood:
7	chr13:52377335..52378174-chr13:52702786..52703324,2	K562	blood:
8	chr13:52418376..52421137-chr13:52421569..52423678,2	MCF-7	breast:
9	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
10	chr13:52398927..52403579-chr13:52421576..52424929,4	K562	blood:
11	chr13:52024578..52027294-chr13:52317199..52320461,4	K562	blood:
12	chr13:52433253..52437139-chr13:52439387..52442312,3	MCF-7	breast:
13	chr13:52025546..52028961-chr13:52358733..52362473,4	K562	blood:
14	chr13:52354470..52357253-chr13:52359051..52361790,2	K562	blood:
15	chr13:52024690..52027265-chr13:52341888..52344446,2	K562	blood:
16	chr13:52024953..52028665-chr13:52311565..52316008,5	MCF-7	breast:
17	chr13:52018773..52019683-chr13:52305733..52306632,3	MCF-7	breast:
18	chr13:52479917..52482346-chr13:52733266..52734768,2	MCF-7	breast:
19	chr13:52008892..52009745-chr13:52355161..52356125,3	MCF-7	breast:
20	chr13:52405263..52408313-chr13:52419489..52422103,3	MCF-7	breast:
21	chr13:52024792..52027224-chr13:52389301..52393113,4	MCF-7	breast:
22	chr13:52318115..52320342-chr13:52321989..52324210,2	MCF-7	breast:
23	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
24	chr13:52480324..52481830-chr13:52493649..52496094,2	MCF-7	breast:
25	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
26	chr13:52158562..52160088-chr13:52305869..52307689,2	MCF-7	breast:
27	chr13:52428643..52431387-chr13:52437841..52440580,2	MCF-7	breast:
28	chr13:52377591..52379548-chr13:52768375..52770242,2	K562	blood:
29	chr13:52025495..52027458-chr13:52501221..52503842,2	MCF-7	breast:
30	chr13:52437942..52440690-chr13:52447041..52448919,2	MCF-7	breast:
31	chr13:52008757..52009930-chr13:52371510..52372492,6	MCF-7	breast:
32	chr13:52409628..52411128-chr17:41400803..41402327,2	K562	blood:
33	chr13:52022483..52024400-chr13:52339695..52341730,2	MCF-7	breast:
34	chr13:52315507..52317807-chr13:52354965..52356735,2	MCF-7	breast:
35	chr13:52458447..52460158-chr13:52472469..52474525,2	K562	blood:
36	chr13:52485914..52486609-chr13:52509619..52510504,2	MCF-7	breast:
37	chr13:52318115..52320342-chr13:52321989..52324210,2	MCF-7	breast:
38	chr13:52013121..52015386-chr13:52344504..52346745,2	MCF-7	breast:
39	chr13:52389367..52389950-chr13:52418848..52419521,2	K562	blood:
40	chr13:52422501..52424987-chr13:52427770..52430154,2	MCF-7	breast:
41	chr13:52473231..52476356-chr13:52478629..52481911,3	K562	blood:
42	chr13:52389338..52389872-chr13:52775197..52776130,2	K562	blood:
43	chr13:52358110..52360394-chr13:52370538..52373206,3	MCF-7	breast:
44	chr13:52473231..52476080-chr13:52478629..52481911,3	K562	blood:
45	chr13:52469831..52471115-chr13:52701846..52702769,5	MCF-7	breast:
46	chr13:52018094..52022677-chr13:52372032..52375431,6	MCF-7	breast:
47	chr13:52470567..52471308-chr13:52498216..52498748,3	MCF-7	breast:
48	chr13:52486992..52489143-chr13:52495004..52497139,2	K562	blood:
49	chr13:52418376..52421137-chr13:52421569..52423678,2	MCF-7	breast:
50	chr13:52402539..52404938-chr13:52405246..52407174,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033955
2	lnc-CCDC70-2	chr13:52506091-52506175	NONHSAT033958
3	lnc-WDFY2-1	chr13:52378433-52378937	ENSG00000231856.1
4	lnc-WDFY2-1	chr13:52380918-52381336	NONHSAT033954
5	lnc-WDFY2-1	chr13:52380918-52381165	NONHSAT033955
6	lnc-DHRS12-1	chr13:52419152-52419286	ENSG00000246013
7	lnc-DHRS12-1	chr13:52412609-52412689	ENSG00000246013
8	lnc-DHRS12-3	chr13:52405281-52405733	l_850_chr13:52405280-52407275_testes
9	lnc-ATP7B-2	chr13:52348057-52348170	NONHSAT033950
10	lnc-DHRS12-3	chr13:52407121-52407275	l_850_chr13:52405280-52407275_testes
11	lnc-WDFY2-1	chr13:52378295-52387482	NONHSAT033952
12	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033954
13	lnc-CCDC70-1	chr13:52495387-52495723	NONHSAT033957
14	lnc-CCDC70-2	chr13:52507330-52508047	NONHSAT033958
15	lnc-ATP7B-2	chr13:52351379-52351519	NONHSAT033950
16	lnc-DHRS12-1	chr13:52387483-52391249	ENSG00000246013
17	lnc-WDFY2-1	chr13:52387293-52387356	ENSG00000231856.1
18	lnc-ATP7B-2	chr13:52345957-52346047	NONHSAT033950
19	lnc-ATP7B-2	chr13:52351196-52351257	NONHSAT033950

No data

Variant related genes	Relation type
CCDC70	TF binding region
ENSG00000231856	TF binding region
DHRS12	TF binding region
CTAGE3P	TF binding region
WDFY2	TF binding region
CCDC70	CpG island
ENSG00000231856	CpG island
DHRS12	CpG island
CTAGE3P	CpG island
WDFY2	CpG island
ENSG00000196787	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000253710	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000123171	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000123191	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000232872	chromatin interactions
ENSG00000156502	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000137720	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000224892	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000136098	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000255561	chromatin interactions
C14orf147	miRNA target sites
CABYR	miRNA target sites
MFN2	miRNA target sites

Extended variants
information (count: 7698 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:7698 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3803201	chr13:52293509-52293510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536968051	chr13:52293519-52293520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs912097	chr13:52293532-52293533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570543182	chr13:52293555-52293556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3825410	chr13:52293641-52293642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs142353590	chr13:52293688-52293689	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75946044	chr13:52293833-52293834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370873071	chr13:52293851-52293852	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190557391	chr13:52293861-52293862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535900680	chr13:52293882-52293883	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555999902	chr13:52293938-52293939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs76579424	chr13:52293946-52293947	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs58078212	chr13:52293986-52293987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564754627	chr13:52294073-52294074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576801372	chr13:52294143-52294144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545481604	chr13:52294209-52294210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542479645	chr13:52294212-52294213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528186226	chr13:52294247-52294248	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375313188	chr13:52294331-52294332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548224539	chr13:52294339-52294340	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17597960	chr13:52294344-52294345	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530766170	chr13:52294346-52294347	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550950517	chr13:52294349-52294350	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181791888	chr13:52294356-52294357	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186379617	chr13:52294388-52294389	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189649698	chr13:52294389-52294390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182722134	chr13:52294402-52294403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368019003	chr13:52294446-52294447	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546687530	chr13:52294465-52294466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533451929	chr13:52294488-52294489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566810249	chr13:52294493-52294494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111842647	chr13:52294504-52294505	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528050433	chr13:52294549-52294550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535598187	chr13:52294626-52294627	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555865081	chr13:52294632-52294633	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569507697	chr13:52294638-52294639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545383602	chr13:52294666-52294667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188245143	chr13:52294796-52294797	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs148978703	chr13:52294820-52294821	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372255770	chr13:52294835-52294836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533367283	chr13:52294896-52294897	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143790492	chr13:52294904-52294905	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs138573786	chr13:52294922-52294923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199735652	chr13:52294967-52294968	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552698758	chr13:52294975-52294976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572761885	chr13:52294986-52294987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541558073	chr13:52294998-52294999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374741282	chr13:52295003-52295004	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547146639	chr13:52295018-52295019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561421028	chr13:52295026-52295027	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:5647 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52247600-52300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:52247600-52300200	Weak transcription	Fetal Lung	lung
3	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:52254600-52301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:52263400-52295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:52264000-52300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:52270800-52301600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:52271200-52301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:52273600-52295200	Weak transcription	Right Ventricle	heart
10	chr13:52273600-52295600	Weak transcription	Pancreas	Pancrea
11	chr13:52273600-52295800	Weak transcription	Spleen	Spleen
12	chr13:52274000-52295600	Weak transcription	Ovary	ovary
13	chr13:52274000-52300400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:52276400-52295400	Weak transcription	Adipose Nuclei	Adipose
15	chr13:52276600-52301800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:52277000-52300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:52278400-52299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:52278800-52301800	Weak transcription	Thymus	Thymus
19	chr13:52278800-52302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:52279400-52295200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:52279400-52300200	Weak transcription	Liver	Liver
22	chr13:52279400-52301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:52279400-52301800	Weak transcription	Gastric	stomach
24	chr13:52279400-52303000	Weak transcription	Lung	lung
25	chr13:52279600-52295000	Weak transcription	HSMMtube	muscle
26	chr13:52279600-52299400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:52279600-52300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:52279600-52301800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:52279600-52301800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:52279600-52304000	Weak transcription	Esophagus	oesophagus
31	chr13:52280200-52301600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:52281000-52294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:52282000-52302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:52283600-52297200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:52284800-52301000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr13:52287800-52295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:52288400-52322200	Weak transcription	K562	blood
38	chr13:52288600-52303000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:52289000-52300200	Weak transcription	Hela-S3	cervix
40	chr13:52289000-52301800	Weak transcription	A549	lung
41	chr13:52289200-52293600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:52289200-52300000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:52289400-52305800	Weak transcription	Fetal Kidney	kidney
44	chr13:52290000-52300400	Weak transcription	NH-A	brain
45	chr13:52290000-52307600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:52290200-52301600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:52290400-52293600	Weak transcription	HMEC	breast
48	chr13:52291400-52293600	Enhancers	Brain Hippocampus Middle	brain
49	chr13:52291400-52295400	Strong transcription	HepG2	liver
50	chr13:52291400-52297200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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