Variant report

Variant	rs12408971
Chromosome Location	chr1:94289053-94289054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11164975	1.00[CEU][hapmap]
rs11164976	1.00[CEU][hapmap]
rs11164979	1.00[CEU][hapmap]
rs11164984	1.00[CEU][hapmap]
rs11164986	1.00[CEU][hapmap]
rs11165004	1.00[CEU][hapmap]
rs11165005	0.89[AFR][1000 genomes]
rs11165006	1.00[CEU][hapmap]
rs11165007	1.00[CEU][hapmap]
rs11165014	0.89[AFR][1000 genomes]
rs11165017	0.88[AFR][1000 genomes]
rs11800779	1.00[CEU][hapmap]
rs12123641	0.83[AFR][1000 genomes]
rs12125068	1.00[CEU][hapmap]
rs12126015	0.82[AFR][1000 genomes]
rs12126518	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12128353	1.00[CEU][hapmap]
rs12129080	1.00[CEU][hapmap]
rs12132181	1.00[CEU][hapmap]
rs12132405	1.00[CEU][hapmap]
rs12132569	1.00[CEU][hapmap]
rs12132625	1.00[CEU][hapmap]
rs12134159	1.00[CEU][hapmap]
rs12135187	1.00[CEU][hapmap]
rs12137698	0.89[AFR][1000 genomes]
rs12139561	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs12139968	1.00[CEU][hapmap]
rs12140014	1.00[CEU][hapmap]
rs12141014	0.87[AFR][1000 genomes]
rs12141697	1.00[CEU][hapmap]
rs12142384	1.00[CEU][hapmap]
rs12143772	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12144176	0.88[AFR][1000 genomes]
rs12240145	1.00[CEU][hapmap]
rs12402671	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12402802	1.00[CEU][hapmap]
rs12404613	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12405302	1.00[CEU][hapmap]
rs12406885	1.00[CEU][hapmap]
rs12407244	1.00[CEU][hapmap]
rs12407550	1.00[CEU][hapmap]
rs12407732	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs12407917	1.00[CEU][hapmap]
rs12408089	1.00[CEU][hapmap]
rs12408109	1.00[CEU][hapmap]
rs12408194	0.89[AFR][1000 genomes]
rs12408402	1.00[CEU][hapmap]
rs12408797	1.00[CEU][hapmap]
rs12408960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410105	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12410147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12410342	1.00[CEU][hapmap]
rs12410985	1.00[CEU][hapmap]
rs12410986	1.00[CEU][hapmap]
rs12411043	1.00[CEU][hapmap]
rs12411056	1.00[CEU][hapmap]
rs12725087	1.00[CEU][hapmap]
rs12745866	1.00[CEU][hapmap]
rs12745888	1.00[CEU][hapmap]
rs17100392	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1848	1.00[CEU][hapmap]
rs1852	1.00[CEU][hapmap]
rs1980084	1.00[CEU][hapmap]
rs3935320	1.00[CEU][hapmap]
rs3935334	1.00[CEU][hapmap]
rs4281327	1.00[CEU][hapmap]
rs4348734	1.00[CEU][hapmap]
rs4354545	1.00[CEU][hapmap]
rs4357541	1.00[CEU][hapmap]
rs4468172	0.85[AFR][1000 genomes]
rs57451717	0.88[AFR][1000 genomes]
rs61024563	0.81[AFR][1000 genomes]
rs6541395	1.00[CEU][hapmap]
rs6684128	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6684389	1.00[CEU][hapmap]
rs6688926	1.00[CEU][hapmap]
rs6691888	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6692107	1.00[CEU][hapmap]
rs717912	1.00[CEU][hapmap]
rs718875	0.84[YRI][hapmap]
rs74101579	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74101581	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7540805	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7544883	1.00[CEU][hapmap]
rs7546315	1.00[CEU][hapmap]
rs960625	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
7	esv1003322	chr1:94285785-94294520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3319346	chr1:94286364-94293162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3513622	chr1:94287264-94292362	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3319347	chr1:94287389-94292237	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3513620	chr1:94287664-94292262	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3319348	chr1:94287864-94291762	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3453869	chr1:94287918-94292127	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3453870	chr1:94287918-94292127	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1811057	chr1:94288115-94291200	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3513621	chr1:94288147-94292147	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv8088	chr1:94288193-94291497	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3319350	chr1:94288241-94291363	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3513613	chr1:94288275-94291370	Flanking Active TSS Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3513615	chr1:94288276-94291363	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3513612	chr1:94288287-94291300	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv13802	chr1:94288287-94291362	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv821520	chr1:94288287-94291584	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv823542	chr1:94288287-94291584	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3513616	chr1:94288291-94291293	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3319344	chr1:94288305-94291297	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3319349	chr1:94288311-94291280	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3513617	chr1:94288315-94291307	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv5334	chr1:94288316-94291352	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv3513623	chr1:94288321-94291302	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv994079	chr1:94288327-94291167	Flanking Active TSS Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv823553	chr1:94288327-94291167	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv33739	chr1:94288344-94291029	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv3319345	chr1:94288359-94291261	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv3513614	chr1:94288369-94291262	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1011314	chr1:94288373-94291256	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv3319351	chr1:94288373-94291260	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv3513624	chr1:94288373-94291260	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1112742	chr1:94288375-94291259	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv988321	chr1:94288427-94291237	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1802300	chr1:94288463-94289863	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases
42	esv1803693	chr1:94288463-94289863	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
43	esv1820865	chr1:94288463-94289863	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
44	esv1793762	chr1:94288463-94290053	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
45	esv1829097	chr1:94288463-94290053	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
46	esv1793933	chr1:94288463-94291252	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1796154	chr1:94288463-94291252	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1799502	chr1:94288463-94291252	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1803858	chr1:94288463-94291252	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1807761	chr1:94288463-94291252	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:94281200-94289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:94283400-94290000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:94284200-94292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:94284400-94289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:94287000-94289400	Enhancers	HMEC	breast
16	chr1:94287000-94292400	Weak transcription	HUVEC	blood vessel
17	chr1:94287400-94293600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:94287600-94291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:94287600-94292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:94287600-94292800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:94287600-94292800	Weak transcription	A549	lung
22	chr1:94287600-94292800	Weak transcription	HSMM	muscle
23	chr1:94287600-94292800	Weak transcription	HSMMtube	muscle
24	chr1:94287600-94292800	Weak transcription	NH-A	brain
25	chr1:94287600-94293200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:94287600-94294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:94287800-94292800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:94288200-94293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:94288600-94289200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:94288600-94291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:94288800-94290000	Weak transcription	Placenta	Placenta
32	chr1:94288800-94292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94288800-94292400	Weak transcription	NHDF-Ad	bronchial
34	chr1:94288800-94292800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:94288800-94293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:94289000-94292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:94289000-94292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:94289000-94293000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:94289000-94293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:94289000-94293200	Weak transcription	NHEK	skin

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