Variant report

Variant	rs593673
Chromosome Location	chr11:107722297-107722298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107720451..107722516-chr11:107723737..107725547,2	K562	blood:
2	chr11:107715556..107718513-chr11:107720703..107722662,2	K562	blood:
3	chr11:107719290..107725550-chr11:107725808..107730435,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs471838	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495836	0.88[CHB][hapmap]
rs518073	0.88[CHB][hapmap]
rs556153	0.88[CHB][hapmap]
rs670456	0.95[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	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
10	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
11	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
12	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 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	chr11:107711800-107722400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:107712200-107723000	Weak transcription	HSMM	muscle
4	chr11:107712200-107728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:107712400-107727200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:107712400-107727800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:107712400-107728000	Weak transcription	NHDF-Ad	bronchial
8	chr11:107712600-107723600	Weak transcription	K562	blood
9	chr11:107712600-107727000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:107712600-107727000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:107712600-107728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:107712600-107728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:107712800-107727000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:107713000-107728400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:107713400-107727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:107713600-107725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:107715000-107725400	Weak transcription	HUVEC	blood vessel
18	chr11:107715000-107727800	Weak transcription	HMEC	breast
19	chr11:107716600-107727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:107719600-107722400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:107719600-107727000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:107719600-107727600	Weak transcription	A549	lung
23	chr11:107719600-107728800	Weak transcription	Small Intestine	intestine
24	chr11:107719800-107722600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:107720000-107722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:107720000-107725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:107720000-107727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:107720000-107727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:107721000-107722600	Weak transcription	NHEK	skin
30	chr11:107721000-107727200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:107721000-107727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:107721000-107728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:107721200-107722400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:107721200-107723800	Weak transcription	GM12878-XiMat	blood
35	chr11:107721200-107725400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:107721200-107727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:107721200-107727200	Weak transcription	Esophagus	oesophagus
38	chr11:107721200-107728400	Weak transcription	Gastric	stomach
39	chr11:107721600-107728400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:107721800-107727600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:107722200-107723000	Enhancers	Rectal Mucosa Donor 31	rectum

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