Variant report

Variant	rs6947138
Chromosome Location	chr7:6386390-6386391
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	chr7:6379408..6381446-chr7:6384710..6386481,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11975814	1.00[AMR][1000 genomes]
rs14627	1.00[AMR][1000 genomes]
rs34832914	1.00[AMR][1000 genomes]
rs35258488	1.00[AMR][1000 genomes]
rs60055081	1.00[AMR][1000 genomes]
rs60066831	0.90[AFR][1000 genomes]
rs60151305	1.00[AMR][1000 genomes]
rs60209405	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60487674	1.00[AMR][1000 genomes]
rs73674121	1.00[AMR][1000 genomes]
rs7805986	1.00[AMR][1000 genomes]
rs7809962	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1025381	chr7:6356704-6409818	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv538716	chr7:6365534-6400845	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6358200-6387200	Weak transcription	HepG2	liver
2	chr7:6358200-6387600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:6358200-6387600	Weak transcription	HSMM	muscle
4	chr7:6358200-6387600	Weak transcription	NH-A	brain
5	chr7:6362800-6387800	Weak transcription	Fetal Lung	lung
6	chr7:6363000-6387600	Weak transcription	NHEK	skin
7	chr7:6367400-6386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:6368400-6387800	Weak transcription	Colonic Mucosa	Colon
9	chr7:6368800-6387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6370000-6387800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:6370200-6387600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:6370200-6387600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:6370200-6387800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:6370400-6387200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:6370400-6387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:6370400-6387600	Weak transcription	Osteobl	bone
17	chr7:6370600-6386400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:6370600-6386400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:6370600-6387200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:6370600-6387200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:6370600-6387600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:6370600-6387600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:6370600-6387600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:6370600-6387600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:6370600-6387800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:6370800-6386400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:6370800-6386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:6370800-6386400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:6370800-6386400	Weak transcription	Esophagus	oesophagus
30	chr7:6370800-6387200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:6370800-6387200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:6370800-6387200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:6370800-6387200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:6370800-6387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:6370800-6387600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:6370800-6387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:6370800-6387800	Weak transcription	Liver	Liver
38	chr7:6370800-6387800	Weak transcription	HSMMtube	muscle
39	chr7:6370800-6387800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:6371000-6386400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:6371000-6387800	Weak transcription	Adipose Nuclei	Adipose
42	chr7:6372000-6387600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:6372000-6387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:6372600-6387200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:6372800-6387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:6373200-6387800	Weak transcription	NHDF-Ad	bronchial
47	chr7:6377000-6387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:6378200-6387200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:6378400-6387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:6378600-6386400	Weak transcription	Stomach Smooth Muscle	stomach

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