Variant report

Variant	rs7943517
Chromosome Location	chr11:16947678-16947679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16947090..16949629-chr11:17095736..17097514,2	MCF-7	breast:
2	chr11:16938600..16942869-chr11:16945668..16948073,6	MCF-7	breast:
3	chr11:16946793..16948459-chr14:74981920..74983438,2	MCF-7	breast:
4	chr11:16939336..16941584-chr11:16944195..16948360,3	K562	blood:
5	chr11:16946724..16949715-chr11:17035488..17037274,2	MCF-7	breast:
6	chr11:16947021..16948883-chr11:16954083..16956444,2	MCF-7	breast:
7	chr11:16947321..16948978-chr11:17097717..17099259,2	MCF-7	breast:
8	chr11:16945639..16949520-chr11:16949584..16951727,4	MCF-7	breast:
9	chr11:16940779..16943639-chr11:16945273..16947792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000272034	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10832700	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11024083	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11824348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12418493	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12708338	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12785711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12787236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12793275	0.88[ASN][1000 genomes]
rs12795133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12802357	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12806040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34441025	0.88[ASN][1000 genomes]
rs34670733	1.00[ASN][1000 genomes]
rs34760218	1.00[ASN][1000 genomes]
rs35677666	1.00[ASN][1000 genomes]
rs35865759	0.88[ASN][1000 genomes]
rs6486322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486325	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7123174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs71484734	0.81[ASN][1000 genomes]
rs71484736	1.00[ASN][1000 genomes]
rs7394448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395923	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7931313	0.88[ASN][1000 genomes]
rs7933299	1.00[JPT][hapmap]
rs7944146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16945600-16947800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
2	chr11:16945600-16947800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:16945800-16948000	Active TSS	Rectal Smooth Muscle	rectum
4	chr11:16946200-16947800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:16946400-16947800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:16946400-16947800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:16946400-16947800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:16946400-16947800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:16946400-16947800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr11:16946400-16947800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr11:16946400-16948000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:16946400-16948000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:16946600-16947800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:16946600-16947800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:16946600-16947800	Active TSS	Aorta	Aorta
16	chr11:16946600-16947800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
17	chr11:16946600-16948000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:16946600-16948000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr11:16946800-16947800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:16946800-16948000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr11:16947000-16947800	Flanking Active TSS	Esophagus	oesophagus
22	chr11:16947000-16947800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:16947000-16947800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr11:16947000-16947800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr11:16947200-16947800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:16947200-16947800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:16947200-16947800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
28	chr11:16947200-16947800	Active TSS	Fetal Kidney	kidney
29	chr11:16947200-16948000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:16947200-16948600	Bivalent Enhancer	Placenta	Placenta
31	chr11:16947200-16948800	Flanking Active TSS	Hela-S3	cervix
32	chr11:16947400-16947800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:16947400-16947800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr11:16947400-16947800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr11:16947400-16947800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:16947400-16947800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr11:16947400-16947800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:16947400-16947800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr11:16947400-16947800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:16947400-16947800	Enhancers	Stomach Mucosa	stomach
41	chr11:16947400-16947800	Bivalent Enhancer	Osteobl	bone
42	chr11:16947400-16948000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr11:16947400-16948000	Flanking Active TSS	HepG2	liver
44	chr11:16947400-16948600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:16947400-16948600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr11:16947400-16948600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:16947600-16947800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr11:16947600-16947800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:16947600-16947800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:16947600-16947800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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