Variant report

Variant	rs320117
Chromosome Location	chr11:63728352-63728353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63727902..63730115-chr11:63749868..63752582,2	MCF-7	breast:
2	chr11:63727759..63729697-chr11:63740502..63742577,3	MCF-7	breast:
3	chr11:63727931..63732327-chr11:63736906..63740363,4	K562	blood:
4	chr11:63724309..63727008-chr11:63727662..63729826,2	MCF-7	breast:
5	chr11:63727872..63730368-chr11:63752285..63755154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176340	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000207200	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11822339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11827620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1392118	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2133548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320112	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs320124	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56781057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57899119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59818390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60791209	0.87[ASN][1000 genomes]
rs61141225	0.87[ASN][1000 genomes]
rs6591831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6591832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7106236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7113021	0.96[AFR][1000 genomes]
rs7127354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7130187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496067	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
2	chr11:63720400-63728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:63720400-63729000	Weak transcription	NHDF-Ad	bronchial
4	chr11:63721000-63728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:63721200-63728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:63722000-63729000	Weak transcription	Small Intestine	intestine
7	chr11:63723400-63728800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:63723600-63728400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:63723600-63728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:63723600-63729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:63723800-63728600	Weak transcription	Colonic Mucosa	Colon
12	chr11:63723800-63728800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:63723800-63729400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:63723800-63730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:63724000-63728400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:63724000-63728400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:63724000-63728600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:63724000-63728800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:63724000-63728800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:63724000-63728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:63724000-63728800	Weak transcription	HSMMtube	muscle
22	chr11:63724000-63729200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:63724000-63729400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:63724000-63729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:63724200-63728400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:63724200-63728400	Weak transcription	HSMM	muscle
27	chr11:63724200-63728600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:63724200-63728600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:63724200-63728600	Weak transcription	HMEC	breast
30	chr11:63724200-63728800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:63724200-63728800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:63724200-63729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:63724200-63729000	Weak transcription	Fetal Lung	lung
34	chr11:63724200-63729000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:63724200-63729000	Weak transcription	Spleen	Spleen
36	chr11:63724200-63729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63724200-63729400	Weak transcription	Osteobl	bone
38	chr11:63724200-63729600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:63724200-63729600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:63724200-63732600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:63724200-63733200	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:63724200-63734800	Weak transcription	Ovary	ovary
43	chr11:63724400-63728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:63724400-63728400	Weak transcription	NHEK	skin
45	chr11:63724400-63729000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:63724400-63729000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:63724400-63729000	Weak transcription	Gastric	stomach
48	chr11:63725000-63728800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:63725000-63729000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:63725200-63728600	Weak transcription	Pancreas	Pancrea

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