Variant report

Variant	rs7480778
Chromosome Location	chr11:17377584-17377585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17230080..17232225-chr11:17374978..17377752,3	K562	blood:
2	chr11:17376027..17378352-chr11:17525355..17527970,2	K562	blood:
3	chr11:17377121..17379727-chr11:17413012..17415189,2	K562	blood:
4	chr11:17375109..17378039-chr11:17387177..17388744,2	MCF-7	breast:
5	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16933984	0.88[ASN][1000 genomes]
rs1989133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214286	0.96[ASN][1000 genomes]
rs2883548	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34000454	0.88[ASN][1000 genomes]
rs34258625	0.81[ASN][1000 genomes]
rs34980243	0.91[ASN][1000 genomes]
rs4433545	0.88[ASN][1000 genomes]
rs4451707	0.88[ASN][1000 genomes]
rs4757509	0.83[ASN][1000 genomes]
rs6486363	0.88[ASN][1000 genomes]
rs7110037	0.91[ASN][1000 genomes]
rs7121987	0.91[ASN][1000 genomes]
rs7395803	0.91[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17375400-17379800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:17375400-17388800	Weak transcription	Spleen	Spleen
3	chr11:17375400-17389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:17375400-17390200	Weak transcription	Small Intestine	intestine
5	chr11:17375600-17388400	Weak transcription	Gastric	stomach
6	chr11:17375600-17388600	Weak transcription	Left Ventricle	heart
7	chr11:17375600-17389000	Weak transcription	Pancreas	Pancrea
8	chr11:17375800-17387600	Weak transcription	Aorta	Aorta
9	chr11:17376000-17378000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:17376000-17378200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17376000-17378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:17376000-17378400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:17376000-17378400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:17376000-17382400	Weak transcription	Fetal Stomach	stomach
15	chr11:17376000-17385400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:17376000-17387200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:17376000-17387400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:17376000-17387600	Weak transcription	Placenta	Placenta
19	chr11:17376000-17387600	Weak transcription	Ovary	ovary
20	chr11:17376000-17387800	Weak transcription	HSMMtube	muscle
21	chr11:17376000-17388000	Weak transcription	Colonic Mucosa	Colon
22	chr11:17376000-17388200	Weak transcription	Thymus	Thymus
23	chr11:17376000-17388400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:17376000-17388400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:17376000-17389000	Weak transcription	NHLF	lung
26	chr11:17376000-17389800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:17376000-17389800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:17376000-17390000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:17376000-17391000	Weak transcription	Right Ventricle	heart
30	chr11:17376200-17377800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:17376200-17378200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:17376200-17379400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:17376200-17380000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:17376200-17381200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:17376200-17385800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:17376200-17390000	Weak transcription	Fetal Brain Male	brain
37	chr11:17376400-17380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:17376400-17390000	Weak transcription	HUVEC	blood vessel
39	chr11:17376400-17390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:17376600-17378000	Weak transcription	Dnd41	blood
41	chr11:17376600-17378400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:17376600-17378400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:17376600-17378400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:17376600-17378400	Weak transcription	Osteobl	bone
45	chr11:17376600-17379600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr11:17376600-17380200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:17376600-17380600	Weak transcription	NHEK	skin
48	chr11:17376600-17387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:17376600-17387800	Weak transcription	NHDF-Ad	bronchial
50	chr11:17376600-17388000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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