Variant report

Variant	nsv878178
Chromosome Location	chr3:195929268-195998451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1265)
CpG islands
(count:2381)
Chromatin interactive
region (count:87)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:195941873-195942167	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:195980516-195980805	K562	blood:	n/a	n/a
3	ARID3A	chr3:195954641-195954826	HepG2	liver:	n/a	n/a
4	ATF2	chr3:195973801-195974026	GM12878	blood:	n/a	n/a
5	ATF2	chr3:195959200-195959859	GM12878	blood:	n/a	n/a
6	ATF2	chr3:195959357-195959732	GM12878	blood:	n/a	n/a
7	ATF3	chr3:195934713-195934988	K562	blood:	n/a	n/a
8	ATF3	chr3:195935158-195935369	K562	blood:	n/a	n/a
9	BACH1	chr3:195995092-195995385	K562	blood:	n/a	n/a
10	BACH1	chr3:195933888-195934343	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:195994708-195995480	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr3:195976826-195977663	GM12878	blood:	n/a	n/a
13	BATF	chr3:195977172-195977384	GM12878	blood:	n/a	n/a
14	BATF	chr3:195959765-195960161	GM12878	blood:	n/a	n/a
15	BATF	chr3:195977742-195977985	GM12878	blood:	n/a	n/a
16	BATF	chr3:195959356-195959721	GM12878	blood:	n/a	n/a
17	BCL11A	chr3:195977748-195978193	GM12878	blood:	n/a	n/a
18	BCL11A	chr3:195973611-195974028	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:195977692-195978090	GM12878	blood:	n/a	n/a
20	BCL3	chr3:195946516-195946940	GM12878	blood:	n/a	n/a
21	BCLAF1	chr3:195980330-195980744	GM12878	blood:	n/a	n/a
22	BHLHE40	chr3:195962577-195963017	GM12878	blood:	n/a	n/a
23	BHLHE40	chr3:195935191-195935424	K562	blood:	n/a	n/a
24	BHLHE40	chr3:195980488-195980685	K562	blood:	n/a	n/a
25	BHLHE40	chr3:195964138-195964522	GM12878	blood:	n/a	n/a
26	BHLHE40	chr3:195995357-195995406	K562	blood:	n/a	n/a
27	BHLHE40	chr3:195929562-195929642	K562	blood:	n/a	n/a
28	BHLHE40	chr3:195941773-195942762	HepG2	liver:	n/a	chr3:195941846-195941862
29	BHLHE40	chr3:195946147-195946748	GM12878	blood:	n/a	n/a
30	BRCA1	chr3:195929588-195929631	HepG2	liver:	n/a	n/a
31	BRCA1	chr3:195995860-195995863	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:195959266-195959342	GM12878	blood:	n/a	n/a
33	BRCA1	chr3:195962648-195962658	GM12878	blood:	n/a	n/a
34	BRCA1	chr3:195954649-195954670	HepG2	liver:	n/a	n/a
35	CBX3	chr3:195931986-195932441	HCT-116	colon:	n/a	n/a
36	CBX3	chr3:195934028-195934433	K562	blood:	n/a	n/a
37	CBX3	chr3:195935061-195935503	K562	blood:	n/a	n/a
38	CCNT2	chr3:195965561-195965761	K562	blood:	n/a	n/a
39	CCNT2	chr3:195935230-195935267	K562	blood:	n/a	n/a
40	CCNT2	chr3:195980427-195980747	K562	blood:	n/a	n/a
41	CEBPB	chr3:195941856-195942090	HepG2	liver:	n/a	n/a
42	CEBPB	chr3:195946582-195946893	HepG2	liver:	n/a	n/a
43	CEBPB	chr3:195947840-195948176	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr3:195936866-195937089	K562	blood:	n/a	n/a
45	CEBPB	chr3:195967359-195967662	IMR90	lung:	n/a	chr3:195967512-195967523
46	CEBPB	chr3:195994572-195994771	K562	blood:	n/a	n/a
47	CEBPB	chr3:195932443-195932935	A549	lung:	n/a	chr3:195932506-195932517
48	CEBPB	chr3:195956005-195956141	K562	blood:	n/a	n/a
49	CEBPB	chr3:195929388-195929727	HepG2	liver:	n/a	n/a
50	CEBPB	chr3:195994636-195994642	Hela-S3	cervix:	n/a	n/a

(count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195942993-195943043	AG09309	skin:	n/a
2	chr3:195946851-195946901	HEK293	kidney:	embryo
3	chr3:195942993-195943043	AG09309	skin:	n/a
4	chr3:195946851-195946901	HEK293	kidney:	embryo
5	chr3:195939612-195939662	GM19239	blood:	n/a
6	chr3:195943579-195943629	HRE	kidney:	n/a
7	chr3:195942993-195943043	NT2-D1	testis:	n/a
8	chr3:195946851-195946901	AG04450	lung:	fetal
9	chr3:195946851-195946901	NB4	blood:	n/a
10	chr3:195942993-195943043	HRPEpiC	eye:	n/a
11	chr3:195939612-195939662	HNPCEpiC	eye:	n/a
12	chr3:195947062-195947112	H1-hESC	embryonic stem cell:	embryo
13	chr3:195938048-195938098	Jurkat	blood:	n/a
14	chr3:195929544-195929594	RPTEC	kidney:	n/a
15	chr3:195946851-195946901	GM12878	blood:	n/a
16	chr3:195974258-195974308	Hela-S3	cervix:	n/a
17	chr3:195943579-195943629	AG09309	skin:	n/a
18	chr3:195934604-195934654	MCF-7	breast:	n/a
19	chr3:195934057-195934107	SKMC	muscle:	n/a
20	chr3:195934213-195934263	GM12891	blood:	n/a
21	chr3:195938668-195938718	T-47D	breast:	n/a
22	chr3:195943636-195943686	ProgFib	skin:	n/a
23	chr3:195943579-195943629	CMK	blood:	n/a
24	chr3:195939612-195939662	LNCaP	prostate:	n/a
25	chr3:195938201-195938251	NH-A	brain:	n/a
26	chr3:195943579-195943629	NHBE	bronchial:	n/a
27	chr3:195939310-195939360	GM19239	blood:	n/a
28	chr3:195943579-195943629	AoSMC	blood vessel:	n/a
29	chr3:195943149-195943199	Hepatocyte	liver:	n/a
30	chr3:195943198-195943248	IMR90	lung:	fetal
31	chr3:195947062-195947112	HL-60	blood:	n/a
32	chr3:195942993-195943043	MCF-7	breast:	n/a
33	chr3:195942993-195943043	MCF10A-Er-Src	breast:	n/a
34	chr3:195943345-195943395	HCM	heart:	n/a
35	chr3:195989296-195989346	PFSK-1	brain:	n/a
36	chr3:195938201-195938251	PrEC	prostate:	n/a
37	chr3:195938048-195938098	Hela-S3	cervix:	n/a
38	chr3:195946851-195946901	BE2_C	brain:	n/a
39	chr3:195965369-195965419	HEK293	kidney:	embryo
40	chr3:195934213-195934263	AG09309	skin:	n/a
41	chr3:195939310-195939360	MCF-7	breast:	n/a
42	chr3:195974300-195974350	HIPEpiC	eye:	n/a
43	chr3:195943444-195943494	NHBE	bronchial:	n/a
44	chr3:195934350-195934400	HUVEC	blood vessel:	n/a
45	chr3:195943713-195943763	HPAEpiC	pulmonary alveolar:	n/a
46	chr3:195974329-195974379	CMK	blood:	n/a
47	chr3:195974258-195974308	RPTEC	kidney:	n/a
48	chr3:195942717-195942767	NT2-D1	testis:	n/a
49	chr3:195974300-195974350	GM06990	blood:	n/a
50	chr3:195947062-195947112	HCT-116	colon:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:195980177..195981081-chr3:196245784..196246649,2	MCF-7	breast:
2	chr3:195941305..195943379-chr3:195955106..195957288,2	K562	blood:
3	chr3:195786462..195788147-chr3:195930755..195932479,2	K562	blood:
4	chr3:195931871..195932800-chr3:196246135..196246657,2	K562	blood:
5	chr1:121484917..121485731-chr3:195957374..195958374,2	MCF-7	breast:
6	chr3:195987889..195991350-chr3:195994108..195996834,3	K562	blood:
7	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
8	chr3:195958884..195960424-chr3:195972113..195974415,2	K562	blood:
9	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
10	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
11	chr3:195960645..195963249-chr3:195964998..195967622,2	MCF-7	breast:
12	chr3:195935861..195938211-chr3:196064110..196066388,2	K562	blood:
13	chr3:195989073..195991796-chr3:195994063..195996834,4	K562	blood:
14	chr3:195952367..195954245-chr3:195957237..195960071,2	K562	blood:
15	chr3:195961871..195964800-chr3:195972048..195973919,2	K562	blood:
16	chr3:195979094..195980840-chr3:195981274..195983857,2	K562	blood:
17	chr3:195977668..195980618-chr3:195990006..195991667,2	MCF-7	breast:
18	chr3:195941852..195943884-chr3:195967765..195970635,2	K562	blood:
19	chr3:195962938..195965329-chr3:196012352..196015973,3	MCF-7	breast:
20	chr3:195980475..195981134-chr3:196172324..196172888,2	MCF-7	breast:
21	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
22	chr3:195951172..195953853-chr3:195961938..195964763,2	K562	blood:
23	chr3:195965458..195967733-chr3:196012588..196015404,2	MCF-7	breast:
24	chr3:195807633..195809874-chr3:195932027..195934415,2	MCF-7	breast:
25	chr3:195987889..195991350-chr3:195994108..195996834,3	K562	blood:
26	chr3:195971988..195973828-chr3:195999663..196002125,2	MCF-7	breast:
27	chr3:195995012..195996670-chr3:196038187..196039923,2	MCF-7	breast:
28	chr3:195945138..195947988-chr3:195949670..195951213,2	MCF-7	breast:
29	chr3:195980492..195981084-chr3:196228420..196229032,2	K562	blood:
30	chr3:195804970..195807492-chr3:195930599..195932477,2	K562	blood:
31	chr3:195995964..195998630-chr3:196022828..196024576,2	K562	blood:
32	chr3:195986241..195988788-chr3:196013204..196014924,2	MCF-7	breast:
33	chr3:195952367..195954245-chr3:195957237..195960071,2	K562	blood:
34	chr3:195979094..195980840-chr3:195981274..195983857,2	K562	blood:
35	chr3:195868576..195870552-chr3:195961996..195964439,2	MCF-7	breast:
36	chr3:195961871..195966167-chr3:195972048..195974427,4	K562	blood:
37	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
38	chr3:195819342..195820879-chr3:195934319..195935878,2	MCF-7	breast:
39	chr3:195976340..195978485-chr3:196049925..196051821,2	K562	blood:
40	chr3:195980367..195983637-chr3:196012923..196015535,4	MCF-7	breast:
41	chr3:195935114..195937817-chr3:195940401..195943040,3	K562	blood:
42	chr3:195947010..195950626-chr3:195954155..195955751,3	K562	blood:
43	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
44	chr3:195964014..195966468-chr3:196228819..196231434,2	K562	blood:
45	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
46	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
47	chr3:195945138..195947988-chr3:195949670..195951213,2	MCF-7	breast:
48	chr3:195951103..195953764-chr3:195954363..195955891,2	K562	blood:
49	chr3:195989073..195991796-chr3:195994063..195996834,4	K562	blood:
50	chr3:195941305..195943379-chr3:195955106..195957288,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCTEX1D2-3	chr3:195961240-195964785	NONHSAT094312
2	lnc-AC069257.9.1-8	chr3:195929220-195929681	l_2563_chr3:195910484-195920505_testes
3	lnc-FBXO45-8	chr3:195967492-195967751	NONHSAT094310
4	lnc-FBXO45-8	chr3:195960018-195960434	NONHSAT094310
5	lnc-FBXO45-8	chr3:195964432-195964524	NONHSAT094311
6	lnc-FBXO45-8	chr3:195960321-195961050	NONHSAT094311

No data

Variant related genes	Relation type
ENSG00000228028	TF binding region
ZDHHC19	TF binding region
SLC51A	TF binding region
PCYT1A	TF binding region
ENSG00000228028	CpG island
ZDHHC19	CpG island
SLC51A	CpG island
PCYT1A	CpG island
ENSG00000163961	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000252174	chromatin interactions
ENSG00000224652	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000163959	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000222335	chromatin interactions

Extended variants
information (count: 3000 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3000 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9812036	chr3:195929268-195929269	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575701484	chr3:195929286-195929287	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs535439597	chr3:195929318-195929319	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs9816676	chr3:195929330-195929331	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566160369	chr3:195929378-195929379	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs1105978	chr3:195929380-195929381	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558724992	chr3:195929390-195929391	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs375279818	chr3:195929400-195929401	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs544546485	chr3:195929414-195929415	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs369822665	chr3:195929449-195929450	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs556483378	chr3:195929474-195929475	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs574527765	chr3:195929491-195929492	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs533844679	chr3:195929493-195929494	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs541845739	chr3:195929497-195929498	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs559850376	chr3:195929526-195929527	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs555237907	chr3:195929535-195929536	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs545549169	chr3:195929553-195929554	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs564721095	chr3:195929629-195929630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs112365615	chr3:195929632-195929633	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	mRNA abundance
20	rs375131090	chr3:195929633-195929634	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs116674608	chr3:195929661-195929662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs568403680	chr3:195929664-195929665	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs529293408	chr3:195929676-195929677	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs547771245	chr3:195929683-195929684	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs565894561	chr3:195929727-195929728	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs192090163	chr3:195929730-195929731	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs79088881	chr3:195929733-195929734	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556609430	chr3:195929776-195929777	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538030779	chr3:195929792-195929793	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs113211711	chr3:195929857-195929858	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs6796530	chr3:195929883-195929884	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145607221	chr3:195929902-195929903	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs535350484	chr3:195929959-195929960	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4311243	chr3:195930000-195930001	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571921848	chr3:195930001-195930002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562395830	chr3:195930002-195930003	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545908564	chr3:195930025-195930026	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560492154	chr3:195930046-195930047	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114936724	chr3:195930136-195930137	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200265519	chr3:195930141-195930142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144340833	chr3:195930155-195930156	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148758870	chr3:195930168-195930169	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561897752	chr3:195930169-195930170	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115926339	chr3:195930181-195930182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs6787075	chr3:195930213-195930214	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543326241	chr3:195930257-195930258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs116276875	chr3:195930260-195930261	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559718751	chr3:195930264-195930265	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79386630	chr3:195930329-195930330	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551891861	chr3:195930384-195930385	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2604 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195919400-195929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:195920000-195929400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:195920200-195930400	Weak transcription	Esophagus	oesophagus
4	chr3:195920200-195930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:195921200-195929400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:195921400-195929600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
8	chr3:195921800-195929400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
10	chr3:195923600-195929400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:195923600-195929600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:195923600-195930200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:195923800-195930200	Weak transcription	Spleen	Spleen
14	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
15	chr3:195924600-195929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:195926400-195929400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:195926400-195929400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:195926400-195929400	Weak transcription	Ovary	ovary
19	chr3:195928800-195929600	Weak transcription	Colonic Mucosa	Colon
20	chr3:195929000-195929800	Enhancers	K562	blood
21	chr3:195929000-195930400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:195929000-195930800	Enhancers	Placenta	Placenta
23	chr3:195929000-195931600	Enhancers	Primary B cells from cord blood	blood
24	chr3:195929000-195931600	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:195929000-195932000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:195929200-195929400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:195929200-195929400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:195929200-195929400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:195929200-195929400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:195929200-195929400	Active TSS	Adipose Nuclei	Adipose
31	chr3:195929200-195929400	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:195929200-195929400	Flanking Active TSS	HepG2	liver
33	chr3:195929200-195929600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:195929200-195929600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:195929200-195929600	Enhancers	Fetal Thymus	thymus
36	chr3:195929200-195929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:195929200-195929800	Enhancers	Fetal Muscle Leg	muscle
38	chr3:195929200-195929800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:195929200-195929800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr3:195929200-195929800	Active TSS	Osteobl	bone
41	chr3:195929200-195930200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:195929200-195931000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:195929400-195929600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:195929400-195929600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:195929400-195929600	Enhancers	Fetal Lung	lung
46	chr3:195929400-195929600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr3:195929400-195929600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr3:195929400-195929800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:195929400-195929800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:195929400-195929800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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