Variant report

Variant	rs6970789
Chromosome Location	chr7:97895126-97895127
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	chr7:97890127..97891931-chr7:97894031..97896338,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245235	1.00[AMR][1000 genomes]
rs10953249	1.00[AMR][1000 genomes]
rs10953251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10953252	1.00[AMR][1000 genomes]
rs10953253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13247283	1.00[AMR][1000 genomes]
rs4562234	1.00[AMR][1000 genomes]
rs4604367	1.00[AMR][1000 genomes]
rs4729425	1.00[AMR][1000 genomes]
rs4729427	1.00[AMR][1000 genomes]
rs4729428	1.00[AMR][1000 genomes]
rs6970535	0.82[AFR][1000 genomes]
rs7778082	1.00[AMR][1000 genomes]
rs7801688	0.84[AFR][1000 genomes]
rs7803433	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97882400-97895200	Weak transcription	NHDF-Ad	bronchial
2	chr7:97882400-97895400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:97882800-97895200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:97882800-97895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:97882800-97895200	Weak transcription	NH-A	brain
6	chr7:97882800-97895200	Weak transcription	NHLF	lung
7	chr7:97886600-97895200	Weak transcription	HepG2	liver
8	chr7:97886600-97896600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:97886600-97909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:97886800-97909200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:97886800-97910000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:97887200-97910000	Weak transcription	Right Ventricle	heart
13	chr7:97887400-97895200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:97887400-97896400	Weak transcription	Ovary	ovary
15	chr7:97887400-97897200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:97887400-97897200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:97887400-97900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:97887400-97908000	Weak transcription	Gastric	stomach
19	chr7:97887400-97910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:97887600-97905800	Weak transcription	Left Ventricle	heart
21	chr7:97887600-97909600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:97888000-97896800	Weak transcription	Fetal Brain Female	brain
23	chr7:97888000-97908000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:97890400-97895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:97890600-97899800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:97890800-97895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:97891000-97896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:97891000-97898400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:97891000-97899600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:97891000-97905200	Weak transcription	Liver	Liver
31	chr7:97891000-97909800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:97891000-97909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:97891200-97895200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:97891200-97895200	Weak transcription	Adipose Nuclei	Adipose
35	chr7:97891200-97895200	Weak transcription	A549	lung
36	chr7:97891200-97895200	Weak transcription	HSMM	muscle
37	chr7:97891200-97895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:97891200-97896400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:97891200-97898000	Weak transcription	Esophagus	oesophagus
40	chr7:97891200-97903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:97891200-97909600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:97891200-97909800	Weak transcription	Aorta	Aorta
43	chr7:97891200-97909800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:97891400-97895200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:97891400-97895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:97891400-97895200	Weak transcription	Primary T cells from cord blood	blood
47	chr7:97891400-97895200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:97891400-97895400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:97891400-97895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:97891400-97896400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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