Variant report

Variant	rs10741472
Chromosome Location	chr11:93423237-93423238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:93423058-93423460	HL-60	blood:	n/a	n/a
2	SPI1	chr11:93423035-93423371	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93393119..93395461-chr11:93422571..93425502,2	K562	blood:

Variant related genes	Relation type
KIAA1731	TF binding region
ENSG00000166004	Chromatin interaction

Extended variants
information (count: 119 )
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]
rs1011993	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]
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	0.96[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];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741473	0.96[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765622	0.94[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];0.97[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765628	0.86[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765629	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831085	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831086	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831092	0.87[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[AFR][1000 genomes];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];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944101	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944105	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954994	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155245	0.82[AMR][1000 genomes]
rs2155246	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155248	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2186686	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509840	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4237560	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303195	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303196	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753095	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753097	1.00[ASW][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753099	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753488	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753489	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[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];0.97[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753492	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753493	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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	0.84[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	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628916	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]
rs629580	1.00[ASN][1000 genomes]
rs630648	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631116	0.80[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642984	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643924	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648162	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655279	0.94[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	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926876	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937523	0.93[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939834	0.97[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];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7940153	0.92[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];0.81[YRI][hapmap];0.82[AMR][1000 genomes];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
rs10741472	LOC374421	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 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	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
5	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:93399200-93439800	Strong transcription	Dnd41	blood
12	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:93409800-93423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
21	chr11:93412000-93426200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:93412200-93434600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:93413800-93430400	Weak transcription	Aorta	Aorta
24	chr11:93413800-93430400	Weak transcription	Esophagus	oesophagus
25	chr11:93413800-93430400	Weak transcription	Pancreas	Pancrea
26	chr11:93413800-93434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:93414000-93430000	Weak transcription	Spleen	Spleen
28	chr11:93415600-93438200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:93415600-93441400	Strong transcription	Liver	Liver
30	chr11:93415800-93423400	Strong transcription	Brain Germinal Matrix	brain
31	chr11:93415800-93423400	Strong transcription	GM12878-XiMat	blood
32	chr11:93415800-93423800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:93415800-93426000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:93415800-93438000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:93416000-93423400	Strong transcription	Fetal Brain Female	brain
37	chr11:93416000-93423400	Strong transcription	Placenta	Placenta
38	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:93418000-93430200	Weak transcription	Stomach Mucosa	stomach
40	chr11:93418400-93429800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:93418600-93429800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:93418600-93430000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:93418600-93430800	Weak transcription	Fetal Heart	heart
44	chr11:93418800-93429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:93418800-93429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:93418800-93429800	Weak transcription	Small Intestine	intestine
47	chr11:93418800-93430000	Weak transcription	Right Ventricle	heart
48	chr11:93419800-93423400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:93420200-93424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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