Variant report

Variant	rs628916
Chromosome Location	chr11:93456715-93456716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93449498..93453225-chr11:93454888..93458363,6	K562	blood:

Variant related genes	Relation type
ENSG00000199875	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10047479	1.00[ASN][1000 genomes]
rs10047481	1.00[ASN][1000 genomes]
rs10047484	1.00[ASN][1000 genomes]
rs1011993	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10128669	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10128673	1.00[ASN][1000 genomes]
rs10128725	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10128726	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10501805	1.00[JPT][hapmap]
rs10734163	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741470	1.00[EUR][1000 genomes]
rs10741471	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10741472	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741473	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765621	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765622	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765628	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10765629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10765631	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831085	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10831086	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831092	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020467	1.00[ASN][1000 genomes]
rs11020468	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020469	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020471	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020474	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020477	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11020493	1.00[CEU][hapmap]
rs11822965	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11828991	1.00[ASN][1000 genomes]
rs12271543	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12272963	1.00[ASN][1000 genomes]
rs12274112	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12275974	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12277268	1.00[ASN][1000 genomes]
rs12278092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12284176	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12295009	1.00[ASN][1000 genomes]
rs13377252	1.00[ASN][1000 genomes]
rs13377541	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16919124	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1784203	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1944099	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944100	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1944101	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1944102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944103	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944105	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1944106	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954994	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2155245	0.80[AFR][1000 genomes]
rs2155246	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2155248	1.00[EUR][1000 genomes]
rs2186686	1.00[EUR][1000 genomes]
rs2509840	1.00[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4237560	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303195	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303196	1.00[EUR][1000 genomes]
rs4753095	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753096	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753097	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4753098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753099	1.00[EUR][1000 genomes]
rs4753488	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4753489	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753490	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753492	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753493	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4753495	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56705833	1.00[ASN][1000 genomes]
rs58111338	1.00[ASN][1000 genomes]
rs586655	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61904920	1.00[ASN][1000 genomes]
rs61904941	1.00[ASN][1000 genomes]
rs61904951	1.00[ASN][1000 genomes]
rs61904958	1.00[ASN][1000 genomes]
rs61906560	1.00[ASN][1000 genomes]
rs61918547	1.00[ASN][1000 genomes]
rs61918549	1.00[ASN][1000 genomes]
rs61918550	1.00[ASN][1000 genomes]
rs61918551	1.00[ASN][1000 genomes]
rs61918553	1.00[ASN][1000 genomes]
rs61918555	1.00[ASN][1000 genomes]
rs61918556	1.00[ASN][1000 genomes]
rs61918557	1.00[ASN][1000 genomes]
rs61918558	1.00[ASN][1000 genomes]
rs61921277	1.00[ASN][1000 genomes]
rs623510	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs629580	1.00[ASN][1000 genomes]
rs630648	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631116	1.00[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642984	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643924	1.00[EUR][1000 genomes]
rs648162	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs655279	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674150	1.00[ASN][1000 genomes]
rs688374	0.83[ASN][1000 genomes]
rs7101779	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111581	1.00[ASN][1000 genomes]
rs7113200	1.00[ASN][1000 genomes]
rs7121150	1.00[EUR][1000 genomes]
rs7127033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7937523	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7939834	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939847	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7940153	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941230	1.00[ASN][1000 genomes]
rs7949850	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs628916	LOC374421	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93440200-93460000	Weak transcription	NHLF	lung
4	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
5	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
6	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
7	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
8	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
10	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
14	chr11:93447600-93457800	Strong transcription	Liver	Liver
15	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:93448000-93460000	Strong transcription	Fetal Intestine Small	intestine
17	chr11:93448000-93465600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:93448600-93461400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:93448600-93465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:93449000-93462200	Weak transcription	Small Intestine	intestine
21	chr11:93449200-93462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
23	chr11:93449400-93458800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:93449400-93461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:93449400-93463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:93449400-93465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:93449600-93457400	Weak transcription	Fetal Brain Female	brain
28	chr11:93449600-93462200	Weak transcription	Spleen	Spleen
29	chr11:93449600-93462400	Weak transcription	Right Ventricle	heart
30	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
31	chr11:93450000-93458800	Weak transcription	Lung	lung
32	chr11:93450000-93459400	Weak transcription	Aorta	Aorta
33	chr11:93450000-93462200	Weak transcription	Pancreas	Pancrea
34	chr11:93450200-93461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:93450200-93461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:93450600-93471800	Weak transcription	Gastric	stomach
37	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:93450800-93458600	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:93450800-93459400	Weak transcription	Osteobl	bone
40	chr11:93451000-93460000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:93451400-93458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:93451600-93469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:93451600-93470800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:93451800-93459600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:93451800-93459600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:93451800-93461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:93451800-93462000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:93451800-93466800	Strong transcription	Dnd41	blood
49	chr11:93452000-93460800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:93452000-93461600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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