Variant report

Variant	rs493037
Chromosome Location	chr11:107713761-107713762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107713214..107715442-chr11:107878460..107880889,2	K562	blood:

Variant related genes	Relation type
ENSG00000166266	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2442683	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2442684	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2456080	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs480641	0.97[EUR][1000 genomes]
rs483463	0.81[EUR][1000 genomes]
rs488030	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs488081	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs488512	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs502253	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs523750	0.81[EUR][1000 genomes]
rs542931	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543568	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs564569	0.81[CEU][hapmap]
rs565438	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs566238	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs573074	0.81[EUR][1000 genomes]
rs575008	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs587130	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651531	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs657608	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs660042	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs668785	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs676108	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1052829	chr11:107686808-107725297	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3417743	chr11:107699670-107725103	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:107705200-107718600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:107711200-107715200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:107711400-107713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:107711400-107715000	Enhancers	HMEC	breast
6	chr11:107711600-107719400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:107711600-107720600	Weak transcription	Pancreas	Pancrea
8	chr11:107711800-107719200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:107711800-107722400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:107712000-107713800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:107712000-107713800	Enhancers	Hela-S3	cervix
12	chr11:107712000-107715000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:107712000-107715000	Enhancers	HUVEC	blood vessel
14	chr11:107712000-107715200	Enhancers	NHEK	skin
15	chr11:107712000-107718400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:107712000-107719200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:107712000-107719200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:107712000-107720600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:107712200-107714800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:107712200-107715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:107712200-107720800	Weak transcription	Esophagus	oesophagus
22	chr11:107712200-107723000	Weak transcription	HSMM	muscle
23	chr11:107712200-107728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:107712400-107716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:107712400-107718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:107712400-107720800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:107712400-107727200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:107712400-107727800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:107712400-107728000	Weak transcription	NHDF-Ad	bronchial
30	chr11:107712600-107718000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:107712600-107723600	Weak transcription	K562	blood
32	chr11:107712600-107727000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:107712600-107727000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:107712600-107728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:107712600-107728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:107712800-107714200	Weak transcription	Placenta	Placenta
37	chr11:107712800-107720400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:107712800-107720400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:107712800-107727000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:107713000-107728400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:107713200-107714000	Enhancers	A549	lung
42	chr11:107713400-107714200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:107713400-107716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:107713400-107727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:107713600-107714000	Enhancers	GM12878-XiMat	blood
46	chr11:107713600-107714800	Weak transcription	NH-A	brain
47	chr11:107713600-107725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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