Variant report

Variant	rs529987
Chromosome Location	chr11:107709850-107709851
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	chr11:107705879..107708165-chr11:107709790..107712179,2	K562	blood:
2	chr11:107709816..107713345-chr11:107727610..107729677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10789638	0.82[ASN][1000 genomes]
rs10890769	0.80[ASN][1000 genomes]
rs10890770	0.82[ASN][1000 genomes]
rs11212405	0.80[ASN][1000 genomes]
rs11212408	0.82[ASN][1000 genomes]
rs12221840	0.82[ASN][1000 genomes]
rs12278174	0.81[ASN][1000 genomes]
rs2510889	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3099829	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105397	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753819	0.82[ASN][1000 genomes]
rs4753821	0.81[ASN][1000 genomes]
rs483463	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs483874	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs488081	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs502398	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs522861	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523750	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs565438	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566238	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573074	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578300	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579485	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs657608	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7949443	0.82[ASN][1000 genomes]
rs9737154	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[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:39 , 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	chr11:107696600-107711000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:107702200-107710600	Weak transcription	Stomach Mucosa	stomach
4	chr11:107702400-107710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:107702400-107710800	Weak transcription	Gastric	stomach
6	chr11:107702800-107710600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:107703600-107710400	Weak transcription	Esophagus	oesophagus
8	chr11:107704200-107710000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:107705000-107710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:107705200-107718600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:107706000-107710600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:107706200-107710600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:107706600-107711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:107706800-107711000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:107706800-107711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:107707200-107710600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:107707400-107710600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:107707400-107711000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:107707400-107711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:107707600-107711000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:107707600-107711600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:107708000-107710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:107708200-107710800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:107708200-107710800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:107709000-107710800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:107709400-107710600	Enhancers	HUVEC	blood vessel
27	chr11:107709400-107713400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:107709600-107710600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:107709600-107710600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:107709600-107712600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:107709800-107710000	Enhancers	K562	blood
32	chr11:107709800-107710600	Enhancers	A549	lung
33	chr11:107709800-107710600	Enhancers	GM12878-XiMat	blood
34	chr11:107709800-107710600	Enhancers	HMEC	breast
35	chr11:107709800-107710600	Enhancers	NHEK	skin
36	chr11:107709800-107710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:107709800-107710800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:107709800-107710800	Enhancers	NH-A	brain
39	chr11:107709800-107710800	Enhancers	NHDF-Ad	bronchial

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