Variant report

Variant	rs7122964
Chromosome Location	chr11:65649002-65649003
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	chr11:65478671..65480330-chr11:65648521..65651673,3	MCF-7	breast:
2	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175602	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57099342	1.00[EUR][1000 genomes]
rs59908564	1.00[EUR][1000 genomes]
rs60857277	1.00[EUR][1000 genomes]
rs7122843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7946742	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950010	0.83[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
2	chr11:65641400-65649200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:65641400-65649200	Weak transcription	Lung	lung
4	chr11:65641400-65649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:65641400-65649600	Weak transcription	Gastric	stomach
6	chr11:65641400-65649800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:65641400-65649800	Weak transcription	Osteobl	bone
8	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
10	chr11:65641400-65650000	Weak transcription	A549	lung
11	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
12	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
16	chr11:65641600-65649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:65641600-65649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:65641600-65649200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:65641600-65649400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:65641600-65649400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:65641600-65649600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:65641600-65649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:65641600-65649600	Weak transcription	Brain Angular Gyrus	brain
24	chr11:65641600-65649600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:65641600-65649800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:65641600-65649800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:65641600-65649800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:65641600-65649800	Weak transcription	Ovary	ovary
29	chr11:65641600-65649800	Weak transcription	Pancreas	Pancrea
30	chr11:65641600-65650000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:65641600-65650000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:65641600-65650000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:65641600-65650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:65641600-65650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:65641600-65650000	Weak transcription	Colonic Mucosa	Colon
36	chr11:65641600-65650000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:65641600-65650000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:65641600-65650000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:65641600-65650000	Weak transcription	NHDF-Ad	bronchial
40	chr11:65641600-65650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:65641600-65650200	Weak transcription	Liver	Liver
42	chr11:65641600-65650400	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:65641600-65651000	Weak transcription	Left Ventricle	heart
44	chr11:65641600-65651000	Weak transcription	Hela-S3	cervix
45	chr11:65641600-65651200	Weak transcription	Psoas Muscle	Psoas
46	chr11:65641600-65655000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:65641600-65655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:65641600-65655000	Weak transcription	Right Atrium	heart
49	chr11:65641800-65649200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:65641800-65649400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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