Variant report

Variant	rs13393442
Chromosome Location	chr2:189199310-189199311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
2	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Extended variants
information (count: 211 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:204)

rs_ID	r²[population]
rs10153666	0.91[AFR][1000 genomes]
rs10171583	0.95[AFR][1000 genomes]
rs10184797	0.95[AFR][1000 genomes]
rs10185493	0.84[AFR][1000 genomes]
rs10190081	0.88[AFR][1000 genomes]
rs10190630	0.88[AFR][1000 genomes]
rs10192679	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10197598	0.89[YRI][hapmap]
rs10198965	0.95[AFR][1000 genomes]
rs10199401	0.95[AFR][1000 genomes]
rs10207510	1.00[YRI][hapmap]
rs10211425	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10432433	0.82[YRI][hapmap]
rs10439261	0.88[AFR][1000 genomes]
rs10804021	1.00[CEU][hapmap]
rs10804022	0.82[YRI][hapmap]
rs10931353	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931357	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10931365	0.81[YRI][hapmap]
rs10931368	0.86[EUR][1000 genomes]
rs11678294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678729	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679720	0.86[EUR][1000 genomes]
rs11679949	1.00[EUR][1000 genomes]
rs11680235	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683340	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683909	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11683969	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11685643	1.00[EUR][1000 genomes]
rs11686476	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687577	0.86[EUR][1000 genomes]
rs11689113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691788	0.86[EUR][1000 genomes]
rs11693105	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695469	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12151778	0.86[EUR][1000 genomes]
rs12185535	0.86[EUR][1000 genomes]
rs12185546	0.86[EUR][1000 genomes]
rs12185596	0.86[EUR][1000 genomes]
rs12185714	0.86[EUR][1000 genomes]
rs12989776	0.86[EUR][1000 genomes]
rs12997039	1.00[CEU][hapmap]
rs13025659	1.00[CEU][hapmap]
rs13386579	0.95[AFR][1000 genomes]
rs13386959	1.00[CEU][hapmap]
rs13391799	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13392080	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13392850	1.00[CEU][hapmap]
rs13397653	1.00[CEU][hapmap]
rs13399616	0.82[YRI][hapmap]
rs13399903	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13401242	1.00[YRI][hapmap]
rs13401321	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13401975	0.88[AFR][1000 genomes]
rs13402240	0.93[AFR][1000 genomes]
rs13403672	0.86[AFR][1000 genomes]
rs13404901	0.88[AFR][1000 genomes]
rs13411351	0.95[AFR][1000 genomes]
rs13414327	1.00[CEU][hapmap]
rs13414813	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13418031	1.00[CEU][hapmap]
rs13418323	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs13423468	0.86[AFR][1000 genomes]
rs13424443	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs28528331	0.86[AFR][1000 genomes]
rs4453658	1.00[CEU][hapmap]
rs4667231	1.00[CEU][hapmap]
rs57067423	1.00[EUR][1000 genomes]
rs57210291	0.86[EUR][1000 genomes]
rs59080597	0.91[AFR][1000 genomes]
rs59668663	1.00[EUR][1000 genomes]
rs6434282	0.82[YRI][hapmap]
rs6434283	0.82[YRI][hapmap]
rs6434287	0.82[YRI][hapmap]
rs6705869	0.95[AFR][1000 genomes]
rs6709557	1.00[CEU][hapmap]
rs6710795	0.89[YRI][hapmap]
rs6736780	0.82[YRI][hapmap]
rs6742748	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6744275	1.00[CEU][hapmap]
rs6744742	0.82[YRI][hapmap]
rs6748075	0.91[AFR][1000 genomes]
rs6755644	0.90[YRI][hapmap]
rs6756504	1.00[CEU][hapmap]
rs6759147	0.82[YRI][hapmap]
rs72895717	0.86[EUR][1000 genomes]
rs72895720	0.86[EUR][1000 genomes]
rs72895723	0.86[EUR][1000 genomes]
rs72895727	0.86[EUR][1000 genomes]
rs72895728	0.86[EUR][1000 genomes]
rs72895740	0.86[EUR][1000 genomes]
rs72895757	0.86[EUR][1000 genomes]
rs72896824	1.00[EUR][1000 genomes]
rs72896833	1.00[EUR][1000 genomes]
rs72896844	1.00[EUR][1000 genomes]
rs72896851	1.00[EUR][1000 genomes]
rs72896856	1.00[EUR][1000 genomes]
rs72896869	0.86[EUR][1000 genomes]
rs72896876	0.86[EUR][1000 genomes]
rs72896879	0.86[EUR][1000 genomes]
rs72896898	0.86[EUR][1000 genomes]
rs72897930	0.86[EUR][1000 genomes]
rs72897939	0.86[EUR][1000 genomes]
rs72901578	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901590	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901594	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903560	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905569	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909505	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909545	1.00[ASN][1000 genomes]
rs72909549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909552	1.00[EUR][1000 genomes]
rs72909553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909559	1.00[EUR][1000 genomes]
rs72909566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909571	1.00[EUR][1000 genomes]
rs72909573	1.00[EUR][1000 genomes]
rs72909575	1.00[EUR][1000 genomes]
rs72909576	1.00[EUR][1000 genomes]
rs72909577	1.00[EUR][1000 genomes]
rs72909579	1.00[EUR][1000 genomes]
rs72909590	1.00[EUR][1000 genomes]
rs72909594	1.00[EUR][1000 genomes]
rs72909595	1.00[EUR][1000 genomes]
rs72909598	1.00[EUR][1000 genomes]
rs72911406	1.00[EUR][1000 genomes]
rs72911432	1.00[EUR][1000 genomes]
rs72911439	1.00[EUR][1000 genomes]
rs72911445	1.00[EUR][1000 genomes]
rs72911448	1.00[EUR][1000 genomes]
rs72911463	1.00[EUR][1000 genomes]
rs72911465	1.00[EUR][1000 genomes]
rs72911476	1.00[EUR][1000 genomes]
rs72911497	1.00[EUR][1000 genomes]
rs72911499	1.00[EUR][1000 genomes]
rs72911501	1.00[EUR][1000 genomes]
rs72911709	0.86[EUR][1000 genomes]
rs72911710	0.86[EUR][1000 genomes]
rs72911713	0.86[EUR][1000 genomes]
rs72911720	0.86[EUR][1000 genomes]
rs72911722	0.86[EUR][1000 genomes]
rs72911724	0.86[EUR][1000 genomes]
rs72911729	0.86[EUR][1000 genomes]
rs72911733	0.86[EUR][1000 genomes]
rs72911739	0.86[EUR][1000 genomes]
rs72911740	0.86[EUR][1000 genomes]
rs72911751	0.86[EUR][1000 genomes]
rs72911762	0.86[EUR][1000 genomes]
rs72911775	0.86[EUR][1000 genomes]
rs72911777	0.86[EUR][1000 genomes]
rs72911779	0.86[EUR][1000 genomes]
rs72911782	0.86[EUR][1000 genomes]
rs72911793	0.86[EUR][1000 genomes]
rs72913327	1.00[EUR][1000 genomes]
rs72913360	1.00[EUR][1000 genomes]
rs72913365	1.00[EUR][1000 genomes]
rs7419798	1.00[CEU][hapmap]
rs7420808	1.00[CEU][hapmap]
rs7421510	1.00[CEU][hapmap]
rs7423329	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs7423378	0.82[YRI][hapmap]
rs7423554	1.00[CEU][hapmap]
rs7562160	1.00[CEU][hapmap]
rs7579593	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7580259	0.80[YRI][hapmap]
rs7587596	1.00[CEU][hapmap]
rs7589600	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7602180	1.00[CEU][hapmap]
rs9288154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288156	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
6	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
7	chr2:189194600-189218200	Weak transcription	Gastric	stomach
8	chr2:189195400-189200800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189196800-189199800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:189197200-189200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:189197200-189200600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:189197200-189200600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:189197400-189200000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:189197400-189200400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:189198000-189199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:189198000-189199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:189198000-189202000	Weak transcription	Pancreas	Pancrea
18	chr2:189198400-189199400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189198400-189199400	Enhancers	Fetal Lung	lung
20	chr2:189198400-189199400	Enhancers	HUVEC	blood vessel
21	chr2:189198400-189199800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:189198600-189199600	Enhancers	Stomach Mucosa	stomach
23	chr2:189198600-189201200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
25	chr2:189198800-189201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:189198800-189204000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:189198800-189205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:189198800-189206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:189199000-189199400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:189199000-189199400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:189199000-189199400	Enhancers	Psoas Muscle	Psoas
32	chr2:189199000-189199400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:189199000-189199400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:189199000-189199800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:189199000-189200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:189199200-189199400	Enhancers	Aorta	Aorta
38	chr2:189199200-189199600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:189199200-189200200	Weak transcription	Ovary	ovary
40	chr2:189199200-189201200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:189199200-189204200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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