Variant report

Variant	rs7120314
Chromosome Location	chr11:77702967-77702968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77701991..77703904-chr11:77704276..77705898,2	MCF-7	breast:
2	chr11:77530485..77532728-chr11:77700651..77703314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149262	Chromatin interaction
ENSG00000048649	Chromatin interaction
ENSG00000087884	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10899415	0.85[EUR][1000 genomes]
rs10899417	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899419	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237336	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11534589	0.82[EUR][1000 genomes]
rs11559637	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11601908	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823006	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12417494	0.82[AFR][1000 genomes]
rs12786047	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789522	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12796422	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12801444	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790238	0.85[EUR][1000 genomes]
rs1790244	0.84[EUR][1000 genomes]
rs1790245	0.85[EUR][1000 genomes]
rs1790256	0.86[EUR][1000 genomes]
rs1793329	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793331	0.85[EUR][1000 genomes]
rs1793338	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793344	0.85[EUR][1000 genomes]
rs2187564	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276349	0.83[EUR][1000 genomes]
rs2510964	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511454	0.81[EUR][1000 genomes]
rs3018156	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3018158	0.81[EUR][1000 genomes]
rs3018167	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018411	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs582582	0.86[ASN][1000 genomes]
rs6592748	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6592751	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115539	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7119390	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7124835	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939854	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7950529	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9704476	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77661400-77704400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77664200-77704000	Weak transcription	NHEK	skin
3	chr11:77665800-77704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:77666000-77704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:77667600-77704200	Weak transcription	NHLF	lung
6	chr11:77671200-77704200	Weak transcription	NHDF-Ad	bronchial
7	chr11:77672000-77703800	Weak transcription	Fetal Brain Male	brain
8	chr11:77679000-77704200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:77681000-77704200	Weak transcription	HSMMtube	muscle
10	chr11:77688200-77704800	Weak transcription	Stomach Mucosa	stomach
11	chr11:77688800-77703400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:77688800-77703400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:77688800-77703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:77689000-77704800	Weak transcription	Fetal Heart	heart
15	chr11:77689200-77703000	Strong transcription	Primary T cells from cord blood	blood
16	chr11:77689200-77704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:77689600-77703000	Strong transcription	Fetal Thymus	thymus
18	chr11:77690400-77704200	Weak transcription	HMEC	breast
19	chr11:77690600-77703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:77690600-77704000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:77690600-77704000	Weak transcription	Brain Substantia Nigra	brain
22	chr11:77690600-77704200	Weak transcription	Gastric	stomach
23	chr11:77690600-77704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:77690600-77704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:77690800-77704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:77690800-77704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:77690800-77704200	Weak transcription	Small Intestine	intestine
28	chr11:77691400-77704000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:77691400-77704800	Weak transcription	Colonic Mucosa	Colon
30	chr11:77692000-77704000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:77692600-77704000	Weak transcription	A549	lung
32	chr11:77692600-77704200	Weak transcription	HUVEC	blood vessel
33	chr11:77696000-77703000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:77696200-77703400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:77696400-77704400	Weak transcription	Fetal Kidney	kidney
36	chr11:77696800-77703200	Strong transcription	Adipose Nuclei	Adipose
37	chr11:77696800-77703400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:77697000-77703200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:77697200-77703000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:77697600-77703000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:77697800-77703400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:77698000-77703000	Strong transcription	Placenta	Placenta
43	chr11:77698200-77703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:77698200-77703400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:77698600-77703000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:77698600-77703400	Strong transcription	Thymus	Thymus
47	chr11:77698800-77703000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:77698800-77703400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:77699000-77704000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:77699000-77704000	Weak transcription	Brain Germinal Matrix	brain

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