Variant report

Variant	rs4473557
Chromosome Location	chr3:164047251-164047252
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10804812	0.83[ASN][1000 genomes]
rs10936408	0.84[ASN][1000 genomes]
rs10936409	0.86[ASN][1000 genomes]
rs10936411	0.86[ASN][1000 genomes]
rs10936414	0.83[AMR][1000 genomes]
rs11536323	0.86[ASN][1000 genomes]
rs11543537	0.86[ASN][1000 genomes]
rs11706518	0.86[ASN][1000 genomes]
rs11706792	0.81[ASN][1000 genomes]
rs11707867	0.82[ASN][1000 genomes]
rs11709197	0.84[ASN][1000 genomes]
rs11710319	0.84[ASN][1000 genomes]
rs11711476	0.81[ASN][1000 genomes]
rs11715639	0.81[ASN][1000 genomes]
rs11718123	0.83[ASN][1000 genomes]
rs11719283	0.82[ASN][1000 genomes]
rs12053977	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12054354	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12487536	0.83[ASN][1000 genomes]
rs12488755	0.86[ASN][1000 genomes]
rs12489916	0.81[ASN][1000 genomes]
rs12490006	0.84[ASN][1000 genomes]
rs12490037	0.83[ASN][1000 genomes]
rs12490057	0.83[ASN][1000 genomes]
rs12490198	0.84[ASN][1000 genomes]
rs12492243	0.83[ASN][1000 genomes]
rs12493169	0.84[ASN][1000 genomes]
rs12494841	0.83[ASN][1000 genomes]
rs12494921	0.86[ASN][1000 genomes]
rs12495535	0.84[ASN][1000 genomes]
rs12638057	0.81[ASN][1000 genomes]
rs1321538	0.86[ASN][1000 genomes]
rs1321539	0.86[ASN][1000 genomes]
rs1349285	0.83[ASN][1000 genomes]
rs1349607	0.83[ASN][1000 genomes]
rs1375839	0.81[ASN][1000 genomes]
rs1449932	0.81[ASN][1000 genomes]
rs1449933	0.81[ASN][1000 genomes]
rs1449934	0.81[ASN][1000 genomes]
rs1452156	0.84[ASN][1000 genomes]
rs1452157	0.83[ASN][1000 genomes]
rs1452161	0.83[ASN][1000 genomes]
rs1452162	0.83[ASN][1000 genomes]
rs1470670	0.84[ASN][1000 genomes]
rs1470799	0.84[ASN][1000 genomes]
rs1530755	0.84[ASN][1000 genomes]
rs1584556	0.83[ASN][1000 genomes]
rs1597402	0.84[ASN][1000 genomes]
rs16847680	0.81[ASN][1000 genomes]
rs16847692	0.81[ASN][1000 genomes]
rs16847698	0.81[ASN][1000 genomes]
rs16847734	0.84[ASN][1000 genomes]
rs1839412	0.83[ASN][1000 genomes]
rs1839413	0.81[ASN][1000 genomes]
rs1992985	0.81[ASN][1000 genomes]
rs1992986	0.81[ASN][1000 genomes]
rs1992987	0.81[ASN][1000 genomes]
rs2122375	0.86[ASN][1000 genomes]
rs2167122	0.86[ASN][1000 genomes]
rs2197949	0.83[ASN][1000 genomes]
rs2218768	0.83[ASN][1000 genomes]
rs2365544	0.85[ASN][1000 genomes]
rs2366086	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2366087	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2366088	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34424956	0.85[AMR][1000 genomes]
rs34720743	0.84[ASN][1000 genomes]
rs35351537	0.81[ASN][1000 genomes]
rs4280642	0.85[ASN][1000 genomes]
rs4449322	0.81[ASN][1000 genomes]
rs55680832	0.86[ASN][1000 genomes]
rs55912583	0.86[ASN][1000 genomes]
rs55922928	0.84[ASN][1000 genomes]
rs55923107	0.81[ASN][1000 genomes]
rs56011219	0.86[ASN][1000 genomes]
rs56121628	0.84[ASN][1000 genomes]
rs56212321	0.84[ASN][1000 genomes]
rs56408530	0.84[ASN][1000 genomes]
rs56668299	0.83[ASN][1000 genomes]
rs59281714	0.81[ASN][1000 genomes]
rs59583312	0.86[ASN][1000 genomes]
rs60419632	0.83[ASN][1000 genomes]
rs73172621	0.83[ASN][1000 genomes]
rs73172622	0.83[ASN][1000 genomes]
rs73172626	0.83[ASN][1000 genomes]
rs73172627	0.83[ASN][1000 genomes]
rs73172632	0.83[ASN][1000 genomes]
rs73172635	0.83[ASN][1000 genomes]
rs9647384	0.84[ASN][1000 genomes]
rs9647389	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877820	chr3:163557163-164167085	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv877825	chr3:163620918-164126802	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv877833	chr3:163761825-164109377	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1009069	chr3:163787128-164323219	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv877836	chr3:163795964-164109377	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877839	chr3:163823186-164126802	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv592435	chr3:163832166-164138131	Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv877840	chr3:163832988-164200220	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv877843	chr3:163835270-164126802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv877847	chr3:163849580-164126802	ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	nsv877849	chr3:163857437-164092986	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
12	nsv877852	chr3:163861355-164126802	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
13	nsv877858	chr3:163864862-164126802	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv592437	chr3:163885473-164095655	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
15	nsv877865	chr3:163902187-164126802	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1831812	chr3:163914791-164048381	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv877867	chr3:163914791-164088664	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv877881	chr3:163922738-164076198	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv877886	chr3:163941553-164126802	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv877887	chr3:163941553-164138131	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv592440	chr3:163951886-164114553	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1010490	chr3:163961100-164399225	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1004944	chr3:163968837-164110498	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv536790	chr3:163968837-164110498	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv497973	chr3:163970658-164370204	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1003471	chr3:163976235-164094643	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv1008208	chr3:163978650-164088858	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv877890	chr3:163989075-164114553	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv877891	chr3:163989075-164126802	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv877892	chr3:163989075-164167085	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv1007325	chr3:163998269-164094643	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv1014815	chr3:164007081-164359622	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv877893	chr3:164018044-164202045	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	esv1843213	chr3:164018044-164209573	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv1006002	chr3:164021906-164653572	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
36	nsv877894	chr3:164026338-164109377	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv877895	chr3:164046501-164126802	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv877896	chr3:164046501-164138131	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164039200-164050000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:164039400-164048800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:164044800-164049000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:164044800-164049400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:164044800-164049400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:164045000-164048800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:164045000-164048800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:164045000-164050200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:164045200-164049000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:164045200-164049600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:164046800-164047400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:164046800-164048000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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