Variant report

Variant	nsv1006737
Chromosome Location	chr3:136466188-136530743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1780)
CpG islands
(count:671)
Chromatin interactive
region (count:84)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:136471156-136472035	K562	blood:	n/a	chr3:136471395-136471403
2	ARID3A	chr3:136477339-136477618	K562	blood:	n/a	n/a
3	ARID3A	chr3:136470012-136470555	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:136467850-136468195	K562	blood:	n/a	n/a
5	ARID3A	chr3:136477219-136477570	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:136469160-136469611	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:136505525-136505977	K562	blood:	n/a	n/a
8	ARID3A	chr3:136471085-136472122	HepG2	liver:	n/a	chr3:136471395-136471403
9	ARID3A	chr3:136505428-136505921	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:136469214-136470334	K562	blood:	n/a	n/a
11	ATF1	chr3:136471166-136472105	K562	blood:	n/a	n/a
12	ATF2	chr3:136470998-136471826	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:136521138-136521806	GM12878	blood:	n/a	n/a
14	ATF2	chr3:136524458-136525098	GM12878	blood:	n/a	n/a
15	ATF2	chr3:136470994-136472378	GM12878	blood:	n/a	n/a
16	ATF2	chr3:136521175-136521760	GM12878	blood:	n/a	n/a
17	ATF2	chr3:136471110-136472276	GM12878	blood:	n/a	n/a
18	ATF2	chr3:136470948-136471524	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr3:136471151-136471860	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr3:136505445-136505960	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr3:136521167-136521585	GM12878	blood:	n/a	chr3:136521382-136521393
22	BATF	chr3:136524597-136524992	GM12878	blood:	n/a	n/a
23	BATF	chr3:136521227-136521566	GM12878	blood:	n/a	chr3:136521382-136521393
24	BATF	chr3:136524585-136524979	GM12878	blood:	n/a	n/a
25	BCL3	chr3:136471010-136471475	A549	lung:	n/a	chr3:136471407-136471420 chr3:136471333-136471346 chr3:136471383-136471396
26	BCL3	chr3:136471643-136472118	A549	lung:	n/a	n/a
27	BCLAF1	chr3:136470804-136472384	GM12878	blood:	n/a	chr3:136471407-136471420 chr3:136471513-136471526 chr3:136471333-136471346 chr3:136471383-136471396 chr3:136471488-136471496
28	BCLAF1	chr3:136521240-136521781	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:136469738-136470649	GM12878	blood:	n/a	chr3:136470538-136470547
30	BCLAF1	chr3:136470998-136472375	GM12878	blood:	n/a	chr3:136471407-136471420 chr3:136471513-136471526 chr3:136471333-136471346 chr3:136471383-136471396 chr3:136471488-136471496
31	BHLHE40	chr3:136502457-136502764	K562	blood:	n/a	n/a
32	BHLHE40	chr3:136470123-136470573	HepG2	liver:	n/a	chr3:136470370-136470386
33	BHLHE40	chr3:136502476-136502757	HepG2	liver:	n/a	n/a
34	BHLHE40	chr3:136504203-136504252	K562	blood:	n/a	n/a
35	BHLHE40	chr3:136470116-136472342	K562	blood:	n/a	chr3:136471378-136471394 chr3:136471678-136471694 chr3:136470370-136470386
36	BHLHE40	chr3:136506341-136506637	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:136524760-136524906	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:136470944-136472061	HepG2	liver:	n/a	chr3:136471378-136471394 chr3:136471678-136471694
39	BHLHE40	chr3:136506337-136506630	HepG2	liver:	n/a	n/a
40	BHLHE40	chr3:136470194-136472206	GM12878	blood:	n/a	chr3:136471378-136471394 chr3:136471678-136471694 chr3:136470370-136470386
41	BHLHE40	chr3:136521329-136521750	GM12878	blood:	n/a	n/a
42	BRCA1	chr3:136471146-136471641	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr3:136470162-136470337	HepG2	liver:	n/a	n/a
44	BRCA1	chr3:136505287-136505987	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr3:136471079-136472377	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr3:136471161-136471846	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:136471037-136471914	HepG2	liver:	n/a	n/a
48	CBX3	chr3:136477263-136477653	K562	blood:	n/a	n/a
49	CBX3	chr3:136470026-136470433	K562	blood:	n/a	n/a
50	CBX3	chr3:136480718-136481385	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:136471162-136471212	HUVEC	blood vessel:	n/a
2	chr3:136471634-136471684	PrEC	prostate:	n/a
3	chr3:136471376-136471426	GM12878	blood:	n/a
4	chr3:136471634-136471684	PANC-1	pancreas:	n/a
5	chr3:136471376-136471426	HepG2	liver:	n/a
6	chr3:136470434-136470484	SK-N-SH_RA	brain:	n/a
7	chr3:136497758-136497808	U87	brain:	n/a
8	chr3:136470434-136470484	RPTEC	kidney:	n/a
9	chr3:136471577-136471627	PFSK-1	brain:	n/a
10	chr3:136471127-136471177	LNCaP	prostate:	n/a
11	chr3:136471803-136471853	HEK293	kidney:	embryo
12	chr3:136471577-136471627	NT2-D1	testis:	n/a
13	chr3:136471162-136471212	SAEC	small airway:	n/a
14	chr3:136468191-136468241	GM12892	blood:	n/a
15	chr3:136471803-136471853	HRCEpiC	kidney:	n/a
16	chr3:136497758-136497808	A549	lung:	n/a
17	chr3:136471634-136471684	GM12891	blood:	n/a
18	chr3:136471162-136471212	AG10803	skin:	n/a
19	chr3:136469005-136469055	ProgFib	skin:	n/a
20	chr3:136471127-136471177	AG10803	skin:	n/a
21	chr3:136471127-136471177	BJ	skin:	n/a
22	chr3:136471634-136471684	SK-N-MC	brain:	n/a
23	chr3:136471803-136471853	AoSMC	blood vessel:	n/a
24	chr3:136470434-136470484	K562	blood:	n/a
25	chr3:136497758-136497808	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:136471376-136471426	MCF10A-Er-Src	breast:	n/a
27	chr3:136471376-136471426	HRPEpiC	eye:	n/a
28	chr3:136471803-136471853	GM19239	blood:	n/a
29	chr3:136471562-136471612	HNPCEpiC	eye:	n/a
30	chr3:136471577-136471627	Hela-S3	cervix:	n/a
31	chr3:136471634-136471684	NT2-D1	testis:	n/a
32	chr3:136471577-136471627	NHDF-neo	bronchial:	n/a
33	chr3:136497758-136497808	Caco-2	colon:	n/a
34	chr3:136471162-136471212	H1-hESC	embryonic stem cell:	embryo
35	chr3:136470434-136470484	GM19239	blood:	n/a
36	chr3:136471376-136471426	HUVEC	blood vessel:	n/a
37	chr3:136471803-136471853	K562	blood:	n/a
38	chr3:136471577-136471627	HRE	kidney:	n/a
39	chr3:136471376-136471426	NB4	blood:	n/a
40	chr3:136471562-136471612	ProgFib	skin:	n/a
41	chr3:136497758-136497808	HUVEC	blood vessel:	n/a
42	chr3:136468191-136468241	T-47D	breast:	n/a
43	chr3:136471376-136471426	Hela-S3	cervix:	n/a
44	chr3:136469005-136469055	MCF10A-Er-Src	breast:	n/a
45	chr3:136471562-136471612	HRE	kidney:	n/a
46	chr3:136471376-136471426	BE2_C	brain:	n/a
47	chr3:136468191-136468241	NHDF-neo	bronchial:	n/a
48	chr3:136471376-136471426	Jurkat	blood:	n/a
49	chr3:136471577-136471627	GM12892	blood:	n/a
50	chr3:136469005-136469055	HCM	heart:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:136489373..136491844-chr3:136498899..136501779,2	MCF-7	breast:
2	chr3:136477479..136478033-chr3:136732451..136733138,2	MCF-7	breast:
3	chr3:136470856..136471380-chr6:90539532..90540065,2	Hela-S3	cervix:
4	chr3:136499197..136501261-chr3:136509704..136512204,2	K562	blood:
5	chr3:136476053..136479031-chr3:136579803..136582728,2	K562	blood:
6	chr3:136477054..136477907-chr3:136732416..136733197,2	K562	blood:
7	chr3:135969104..135971090-chr3:136470031..136473091,3	MCF-7	breast:
8	chr3:136233567..136235148-chr3:136468458..136469958,2	K562	blood:
9	chr3:136472622..136474527-chr3:136477300..136478827,2	K562	blood:
10	chr3:136470426..136473308-chr3:136475209..136476842,2	K562	blood:
11	chr3:136469342..136471925-chr3:136490168..136491788,2	K562	blood:
12	chr3:136470323..136472944-chr3:136524724..136526254,2	K562	blood:
13	chr3:135968107..135969967-chr3:136470513..136472370,2	MCF-7	breast:
14	chr3:136499197..136501261-chr3:136509704..136512204,2	K562	blood:
15	chr3:136472151..136474742-chr3:136749777..136751390,2	K562	blood:
16	chr11:355696..356315-chr3:136468945..136469445,2	Hela-S3	cervix:
17	chr3:136476088..136479031-chr3:136581100..136582728,2	K562	blood:
18	chr11:62609047..62610004-chr3:136469655..136471390,4	Hela-S3	cervix:
19	chr3:135912817..135916962-chr3:136469681..136473212,8	K562	blood:
20	chr3:136460807..136463236-chr3:136469569..136471141,2	MCF-7	breast:
21	chr3:136470410..136471092-chr7:32996883..32997834,2	Hela-S3	cervix:
22	chr12:7053185..7053691-chr3:136471368..136471965,2	Hela-S3	cervix:
23	chr3:135968756..135970580-chr3:136469634..136471998,2	K562	blood:
24	chr19:12901783..12902716-chr3:136470756..136471316,2	Hela-S3	cervix:
25	chr3:136389263..136391478-chr3:136467252..136469430,2	K562	blood:
26	chr3:136470431..136471115-chr5:53606331..53606920,2	Hela-S3	cervix:
27	chr3:101567901..101568689-chr3:136470284..136471127,2	Hela-S3	cervix:
28	chr1:147806325..147807312-chr3:136470105..136471009,2	Hela-S3	cervix:
29	chr3:136469358..136473351-chr3:136579831..136582888,9	MCF-7	breast:
30	chr3:136486125..136487075-chr3:136732472..136733275,2	MCF-7	breast:
31	chr3:136453394..136456450-chr3:136469548..136472199,3	K562	blood:
32	chr3:136489373..136491844-chr3:136498899..136501779,2	MCF-7	breast:
33	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:
34	chr3:136519623..136521765-chr3:136526630..136528947,2	MCF-7	breast:
35	chr3:136468701..136475672-chr3:136535815..136540749,9	K562	blood:
36	chr1:28832529..28833084-chr3:136470773..136471712,2	HCT-116	colon:
37	chr3:136474418..136476712-chr3:136579145..136582039,3	MCF-7	breast:
38	chr3:136277326..136280102-chr3:136471685..136473348,2	MCF-7	breast:
39	chr1:37940031..37940548-chr3:136471240..136471770,2	Hela-S3	cervix:
40	chr3:136470266..136473022-chr3:136498014..136500937,2	MCF-7	breast:
41	chr3:136464546..136467728-chr3:136469677..136472541,3	MCF-7	breast:
42	chr3:136275233..136277480-chr3:136465524..136468247,2	K562	blood:
43	chr3:136309415..136311669-chr3:136473283..136476207,2	K562	blood:
44	chr3:136472622..136474527-chr3:136477300..136478827,2	K562	blood:
45	chr3:136521855..136523669-chr3:136580388..136582521,2	MCF-7	breast:
46	chr3:136460640..136463485-chr3:136464653..136466977,3	K562	blood:
47	chr3:136208388..136211090-chr3:136467197..136470066,2	K562	blood:
48	chr3:136503077..136505635-chr3:136505937..136507596,2	MCF-7	breast:
49	chr3:136498020..136500935-chr3:136501120..136504401,3	MCF-7	breast:
50	chr3:136505315..136507042-chr3:136508359..136510151,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG1-4	chr3:136486167-136486437	NONHSAT092284
2	lnc-STAG1-5	chr3:136527393-136527924	NONHSAT092286
3	lnc-TMEM22-1	chr3:136472487-136472720	NONHSAT092283
4	lnc-TMEM22-1	chr3:136471472-136474622	ENSG00000261758.1
5	lnc-TMEM22-3	chr3:136497020-136497310	NONHSAT092285
6	lnc-TMEM22-3	chr3:136496640-136496711	FPKM1_group_22046_transcript_2
7	lnc-TMEM22-3	chr3:136496640-136496711	NONHSAT092285
8	lnc-TMEM22-3	chr3:136496678-136496968	FPKM1_group_22046_transcript_2
9	lnc-STAG1-5	chr3:136528289-136528465	NONHSAT092286

No data

Variant related genes	Relation type
ENSG00000261758	TF binding region
STAG1	TF binding region
ENSG00000242968	TF binding region
ENSG00000261758	CpG island
STAG1	CpG island
ENSG00000242968	CpG island
ENSG00000240695	chromatin interactions
ENSG00000261758	chromatin interactions
ENSG00000163785	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000122642	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000168917	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000143554	chromatin interactions
ENSG00000158092	chromatin interactions
ENSG00000251708	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000114054	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000185305	chromatin interactions
ENSG00000118007	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000184203	chromatin interactions
ENSG00000118412	chromatin interactions
ENSG00000242968	chromatin interactions
ENSG00000163874	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000239213	chromatin interactions
ENSG00000144802	chromatin interactions

Extended variants
information (count: 1905 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1905 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113936307	chr3:136466239-136466240	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564549585	chr3:136466240-136466241	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4502535	chr3:136466282-136466283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143098327	chr3:136466304-136466305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555777767	chr3:136466367-136466368	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184562145	chr3:136466373-136466374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145097553	chr3:136466388-136466389	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs6805814	chr3:136466391-136466392	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs377143707	chr3:136466392-136466393	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544328440	chr3:136466395-136466396	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188875270	chr3:136466398-136466399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111919234	chr3:136466400-136466401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
13	rs560729566	chr3:136466424-136466425	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568486713	chr3:136466488-136466489	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181434701	chr3:136466506-136466507	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144734428	chr3:136466509-136466510	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186511525	chr3:136466531-136466532	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562533260	chr3:136466560-136466561	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148500338	chr3:136466568-136466569	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6439655	chr3:136466599-136466600	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564660231	chr3:136466600-136466601	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79666771	chr3:136466634-136466635	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs546169115	chr3:136466688-136466689	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs189316697	chr3:136466739-136466740	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs111455207	chr3:136466847-136466848	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs369220612	chr3:136466897-136466898	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567444103	chr3:136466909-136466910	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs199707345	chr3:136466961-136466962	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs143848342	chr3:136466962-136466963	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569197180	chr3:136466971-136466972	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs377517619	chr3:136466980-136466981	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs74393179	chr3:136467051-136467052	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs147254021	chr3:136467106-136467107	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs7652657	chr3:136467146-136467147	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571781752	chr3:136467151-136467152	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs534386128	chr3:136467158-136467159	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs373129174	chr3:136467172-136467173	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs554394846	chr3:136467216-136467217	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs574231472	chr3:136467227-136467228	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs565971182	chr3:136467240-136467241	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs543342426	chr3:136467290-136467291	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs376277487	chr3:136467300-136467301	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575965471	chr3:136467340-136467341	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs73230065	chr3:136467355-136467356	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs180815919	chr3:136467422-136467423	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs185845694	chr3:136467427-136467428	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs62824161	chr3:136467442-136467443	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs398062831	chr3:136467448-136467449	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs113248290	chr3:136467498-136467499	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs77191541	chr3:136467555-136467556	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1422 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136432400-136468200	Weak transcription	Aorta	Aorta
2	chr3:136448200-136467600	Weak transcription	HSMM	muscle
3	chr3:136448200-136467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:136448200-136467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:136448200-136467800	Weak transcription	HSMMtube	muscle
6	chr3:136448600-136467600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:136450400-136467800	Weak transcription	Psoas Muscle	Psoas
9	chr3:136450600-136467800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:136450800-136467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:136450800-136467800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:136450800-136467800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:136450800-136469000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:136451000-136467800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:136453600-136467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:136453800-136467600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:136454200-136467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:136454200-136469200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:136454200-136470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:136454400-136467800	Weak transcription	Liver	Liver
21	chr3:136454400-136467800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:136454400-136469200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:136454600-136467800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:136454800-136469200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:136455000-136467000	Weak transcription	Left Ventricle	heart
26	chr3:136455800-136467800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:136456000-136466200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:136456000-136467800	Weak transcription	NH-A	brain
29	chr3:136456200-136467800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:136456400-136467000	Weak transcription	Lung	lung
31	chr3:136456400-136467400	Weak transcription	Right Ventricle	heart
32	chr3:136456400-136468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:136456600-136467800	Weak transcription	Fetal Intestine Large	intestine
34	chr3:136457400-136470000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:136457600-136466200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:136458400-136470000	Weak transcription	Esophagus	oesophagus
37	chr3:136459800-136467800	Weak transcription	Fetal Kidney	kidney
38	chr3:136460200-136467800	Weak transcription	NHEK	skin
39	chr3:136460400-136468000	Weak transcription	Gastric	stomach
40	chr3:136460800-136467600	Weak transcription	K562	blood
41	chr3:136460800-136467800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:136461200-136467600	Weak transcription	Hela-S3	cervix
43	chr3:136461200-136467600	Weak transcription	Osteobl	bone
44	chr3:136461200-136467800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:136461200-136467800	Weak transcription	A549	lung
46	chr3:136461400-136467600	Weak transcription	NHDF-Ad	bronchial
47	chr3:136462800-136466200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:136462800-136467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:136462800-136468000	Weak transcription	NHLF	lung
50	chr3:136463200-136467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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