Variant report

Variant	rs1011993
Chromosome Location	chr11:93439422-93439423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93439393..93441610-chr11:93467197..93469691,2	K562	blood:
2	chr11:93437324..93440222-chr11:93470105..93472885,2	K562	blood:
3	chr11:93395504..93399552-chr11:93436710..93441149,5	K562	blood:
4	chr11:93415308..93417888-chr11:93438253..93439878,2	K562	blood:
5	chr11:93437896..93440222-chr11:93469101..93471605,2	K562	blood:

Variant related genes	Relation type
ENSG00000210825	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10047479	1.00[ASN][1000 genomes]
rs10047481	1.00[ASN][1000 genomes]
rs10047484	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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741470	1.00[EUR][1000 genomes]
rs10741471	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741472	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765621	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765624	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765625	0.82[AMR][1000 genomes]
rs10765626	0.82[AMR][1000 genomes]
rs10765627	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765628	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765629	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10765631	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831085	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831086	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831088	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831092	0.86[AFR][1000 genomes];1.00[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];0.82[AMR][1000 genomes];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];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944100	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944101	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944105	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944106	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954994	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155245	0.82[AMR][1000 genomes]
rs2155246	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155248	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2186686	0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509840	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4237560	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303195	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303196	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753095	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753096	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753097	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753099	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753488	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753489	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753492	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753493	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753495	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[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	0.90[AFR][1000 genomes];1.00[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];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628916	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]
rs629580	1.00[ASN][1000 genomes]
rs630648	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631116	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642984	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643924	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648162	1.00[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655279	0.98[AFR][1000 genomes];1.00[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];0.95[AFR][1000 genomes];1.00[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];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926876	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937523	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939847	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7940153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941230	1.00[ASN][1000 genomes]
rs7949850	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv819292	chr11:93436985-93440060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1011993	LOC374421	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:93399200-93439800	Strong transcription	Dnd41	blood
8	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
15	chr11:93415600-93441400	Strong transcription	Liver	Liver
16	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:93420600-93441200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:93420800-93441400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
22	chr11:93421600-93442000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:93422600-93440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:93423600-93442000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:93424000-93442600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:93424800-93440400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:93426800-93443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:93427000-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:93427000-93442600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
34	chr11:93427400-93440800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:93427600-93441400	Strong transcription	Adipose Nuclei	Adipose
36	chr11:93428600-93441200	Strong transcription	GM12878-XiMat	blood
37	chr11:93429200-93442000	Strong transcription	Brain Germinal Matrix	brain
38	chr11:93430400-93440000	Weak transcription	Colonic Mucosa	Colon
39	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
40	chr11:93431400-93439600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:93431600-93440600	Weak transcription	Esophagus	oesophagus
43	chr11:93431600-93441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:93431800-93439800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
47	chr11:93432400-93443000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:93432400-93448000	Weak transcription	Gastric	stomach
49	chr11:93432600-93441600	Weak transcription	Fetal Brain Male	brain
50	chr11:93432600-93441600	Weak transcription	Placenta Amnion	Placenta Amnion

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