Variant report

Variant	rs4753098
Chromosome Location	chr11:93417437-93417438
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	chr11:93415308..93417888-chr11:93438253..93439878,2	K562	blood:
2	chr11:93414129..93418173-chr11:93428809..93431936,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1011993	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]
rs10128669	1.00[JPT][hapmap]
rs10128725	1.00[JPT][hapmap]
rs10128726	1.00[JPT][hapmap]
rs10501805	1.00[JPT][hapmap]
rs10734163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741470	1.00[EUR][1000 genomes]
rs10741471	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741472	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]
rs10741473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765621	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765622	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765625	0.82[AMR][1000 genomes]
rs10765626	0.82[AMR][1000 genomes]
rs10765627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765628	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765631	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831085	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831086	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10831088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831092	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11020468	1.00[JPT][hapmap]
rs11020469	1.00[JPT][hapmap]
rs11020471	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11020474	1.00[JPT][hapmap]
rs11020477	1.00[CEU][hapmap];0.84[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]
rs12271543	1.00[JPT][hapmap]
rs12274112	1.00[JPT][hapmap]
rs12275974	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12278092	1.00[JPT][hapmap]
rs12284176	1.00[JPT][hapmap]
rs13377541	1.00[JPT][hapmap]
rs16919124	1.00[JPT][hapmap]
rs1784203	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944100	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944101	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944105	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944106	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1954994	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155245	0.82[AMR][1000 genomes]
rs2155246	1.00[CEU][hapmap];0.85[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	0.85[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	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4303195	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4303196	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753095	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753096	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753097	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753099	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753488	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753489	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753490	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753491	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753493	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753495	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586655	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs623510	1.00[CEU][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628916	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]
rs630648	1.00[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631116	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642984	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
rs7101779	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121150	1.00[EUR][1000 genomes]
rs7127033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926876	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937523	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939847	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes]
rs7940153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942448	0.80[AFR][1000 genomes]
rs7949850	1.00[CEU][hapmap];0.82[AFR][1000 genomes];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
rs4753098	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	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
2	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
4	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
8	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:93399200-93439800	Strong transcription	Dnd41	blood
15	chr11:93399600-93418600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:93399600-93418800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:93399800-93418800	Strong transcription	Adipose Nuclei	Adipose
18	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:93400800-93419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:93403800-93417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:93408200-93417600	Weak transcription	Fetal Kidney	kidney
27	chr11:93408800-93422200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:93409800-93423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:93411600-93420400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:93411800-93419000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:93411800-93419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:93411800-93419400	Strong transcription	Left Ventricle	heart
37	chr11:93412000-93418800	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:93412000-93418800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:93412000-93426200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:93412200-93418800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:93412200-93418800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:93412200-93434600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:93412400-93418800	Strong transcription	NHDF-Ad	bronchial
44	chr11:93413800-93417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:93413800-93417600	Weak transcription	Gastric	stomach
46	chr11:93413800-93417600	Weak transcription	Thymus	Thymus
47	chr11:93413800-93418200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:93413800-93421800	Weak transcription	Lung	lung
49	chr11:93413800-93422200	Weak transcription	Colonic Mucosa	Colon
50	chr11:93413800-93430400	Weak transcription	Aorta	Aorta

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