Variant report

Variant	rs4753492
Chromosome Location	chr11:93423465-93423466
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000166004	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1011993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10741471	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10741472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10741473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765625	0.82[AMR][1000 genomes]
rs10765626	0.82[AMR][1000 genomes]
rs10765627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765628	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10765629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10765631	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10831085	0.82[AMR][1000 genomes]
rs10831086	0.97[AFR][1000 genomes]
rs10831088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10831092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11020477	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1784203	0.82[AMR][1000 genomes]
rs1944099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1944100	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1944101	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1944102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1944103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1944105	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1954994	0.82[AMR][1000 genomes]
rs2155245	0.82[AMR][1000 genomes]
rs2155246	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2155248	0.82[AMR][1000 genomes]
rs2186686	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2509840	0.82[AMR][1000 genomes]
rs4237560	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4303195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303196	0.82[AMR][1000 genomes]
rs4753095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753097	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4753098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753099	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4753488	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4753489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753493	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs586655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs623510	1.00[AMR][1000 genomes]
rs628916	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs630648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631116	1.00[AMR][1000 genomes]
rs642984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs643924	0.82[AMR][1000 genomes]
rs648162	0.82[AMR][1000 genomes]
rs655279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7101779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926876	0.82[AMR][1000 genomes]
rs7937523	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7939834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939847	0.95[AFR][1000 genomes]
rs7940153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949850	0.82[AMR][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

No data

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	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
19	chr11:93412000-93426200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:93412200-93434600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:93413800-93430400	Weak transcription	Aorta	Aorta
22	chr11:93413800-93430400	Weak transcription	Esophagus	oesophagus
23	chr11:93413800-93430400	Weak transcription	Pancreas	Pancrea
24	chr11:93413800-93434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:93414000-93430000	Weak transcription	Spleen	Spleen
26	chr11:93415600-93438200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:93415600-93441400	Strong transcription	Liver	Liver
28	chr11:93415800-93423800	Strong transcription	Primary T cells from cord blood	blood
29	chr11:93415800-93426000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:93415800-93438000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:93418000-93430200	Weak transcription	Stomach Mucosa	stomach
34	chr11:93418400-93429800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:93418600-93429800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:93418600-93430000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:93418600-93430800	Weak transcription	Fetal Heart	heart
38	chr11:93418800-93429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:93418800-93429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:93418800-93429800	Weak transcription	Small Intestine	intestine
41	chr11:93418800-93430000	Weak transcription	Right Ventricle	heart
42	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:93420200-93424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:93420200-93426000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:93420400-93426000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:93420400-93426000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:93420600-93441200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:93420800-93423600	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:93420800-93425800	Strong transcription	Osteobl	bone
50	chr11:93420800-93426000	Strong transcription	Adipose Nuclei	Adipose

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