Variant report

Variant	rs2214286
Chromosome Location	chr11:17376064-17376065
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17375991..17376649-chr11:17405080..17405838,2	MCF-7	breast:
3	chr11:17230080..17232225-chr11:17374978..17377752,3	K562	blood:
4	chr11:17374927..17377561-chr11:17380204..17381748,2	MCF-7	breast:
5	chr11:17376027..17378352-chr11:17525355..17527970,2	K562	blood:
6	chr11:17227592..17229554-chr11:17374779..17376818,3	K562	blood:
7	chr11:17094939..17097323-chr11:17374509..17376379,2	K562	blood:
8	chr11:17229934..17232096-chr11:17374472..17377356,2	MCF-7	breast:
9	chr11:17375893..17376701-chr11:17549376..17550298,3	MCF-7	breast:
10	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
11	chr11:17374681..17376841-chr11:18414734..18417596,2	K562	blood:
12	chr11:17263778..17266098-chr11:17373764..17376124,2	K562	blood:
13	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:
14	chr11:17375109..17378039-chr11:17387177..17388744,2	MCF-7	breast:
15	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
16	chr11:17251256..17252008-chr11:17375735..17376626,3	MCF-7	breast:
17	chr11:17227592..17232225-chr11:17372606..17377021,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187486	Chromatin interaction
ENSG00000221322	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000272034	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000011405	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12791318	0.82[ASN][1000 genomes]
rs16933984	0.92[ASN][1000 genomes]
rs1989133	0.96[ASN][1000 genomes]
rs2883548	0.94[ASN][1000 genomes]
rs34000454	0.92[ASN][1000 genomes]
rs34258625	0.84[ASN][1000 genomes]
rs34980243	0.95[ASN][1000 genomes]
rs4433545	0.92[ASN][1000 genomes]
rs4451707	0.92[ASN][1000 genomes]
rs4757509	0.87[ASN][1000 genomes]
rs6486363	0.92[ASN][1000 genomes]
rs7110037	0.95[ASN][1000 genomes]
rs7121987	0.95[ASN][1000 genomes]
rs7395803	0.95[ASN][1000 genomes]
rs7480778	0.96[ASN][1000 genomes]
rs7937091	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17372800-17376200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17372800-17376600	Active TSS	Brain Hippocampus Middle	brain
3	chr11:17372800-17376600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:17373000-17376200	Active TSS	A549	lung
5	chr11:17373200-17376600	Active TSS	Brain Angular Gyrus	brain
6	chr11:17374000-17376200	Flanking Active TSS	Liver	Liver
7	chr11:17374600-17376800	Active TSS	K562	blood
8	chr11:17374800-17376200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:17374800-17376200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:17374800-17376400	Active TSS	Fetal Brain Female	brain
11	chr11:17374800-17376400	Active TSS	Hela-S3	cervix
12	chr11:17375000-17376200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:17375400-17376200	Flanking Active TSS	HUVEC	blood vessel
14	chr11:17375400-17379800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:17375400-17388800	Weak transcription	Spleen	Spleen
16	chr11:17375400-17389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:17375400-17390200	Weak transcription	Small Intestine	intestine
18	chr11:17375600-17376200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:17375600-17376200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:17375600-17376200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:17375600-17376200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr11:17375600-17376200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr11:17375600-17376200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:17375600-17376400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:17375600-17376400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:17375600-17376400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:17375600-17376400	Flanking Active TSS	NHEK	skin
28	chr11:17375600-17376400	Flanking Active TSS	Osteobl	bone
29	chr11:17375600-17376600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:17375600-17388400	Weak transcription	Gastric	stomach
31	chr11:17375600-17388600	Weak transcription	Left Ventricle	heart
32	chr11:17375600-17389000	Weak transcription	Pancreas	Pancrea
33	chr11:17375800-17376200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:17375800-17376200	Flanking Active TSS	HepG2	liver
35	chr11:17375800-17387600	Weak transcription	Aorta	Aorta
36	chr11:17376000-17376200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:17376000-17376200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr11:17376000-17376200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:17376000-17376200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:17376000-17376200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:17376000-17376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:17376000-17376200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:17376000-17376200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:17376000-17376200	Enhancers	Fetal Brain Male	brain
45	chr11:17376000-17376200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:17376000-17376200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:17376000-17376200	Active TSS	HSMM	muscle
48	chr11:17376000-17376200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:17376000-17376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:17376000-17376400	Enhancers	Primary T helper cells PMA-I stimulated	--

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