Variant report

Variant	rs836475
Chromosome Location	chr7:6433932-6433933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6420136..6422492-chr7:6433519..6436270,2	MCF-7	breast:
2	chr7:6414056..6415666-chr7:6433244..6435938,2	MCF-7	breast:
3	chr7:6432861..6434417-chr7:6442117..6443834,2	MCF-7	breast:
4	chr7:6431756..6435735-chr7:6436671..6439752,6	MCF-7	breast:
5	chr7:6431775..6434050-chr7:6443689..6446584,2	K562	blood:
6	chr7:6425039..6427961-chr7:6431283..6434070,6	K562	blood:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10225406	1.00[EUR][1000 genomes]
rs10255411	1.00[MEX][hapmap]
rs10267982	1.00[MEX][hapmap]
rs2689422	0.92[ASN][1000 genomes]
rs7802183	1.00[JPT][hapmap]
rs836469	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs836484	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836485	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836496	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836497	0.89[AMR][1000 genomes]
rs836501	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836505	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836515	1.00[EUR][1000 genomes]
rs836522	1.00[EUR][1000 genomes]
rs836524	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs836530	1.00[JPT][hapmap]
rs836533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs836537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs836538	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs836553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836555	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836560	1.00[TSI][hapmap]
rs866279	0.83[CHD][hapmap]

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	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	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
8	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
9	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
10	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
2	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6426600-6434200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:6426600-6434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:6426600-6436200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:6426800-6434600	Strong transcription	HepG2	liver
9	chr7:6426800-6436200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:6426800-6436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:6426800-6436600	Strong transcription	Dnd41	blood
12	chr7:6427000-6436400	Strong transcription	Fetal Stomach	stomach
13	chr7:6427200-6434200	Strong transcription	Fetal Brain Female	brain
14	chr7:6427400-6434600	Strong transcription	Primary T cells from cord blood	blood
15	chr7:6427600-6435600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:6429600-6437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:6429800-6436200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:6430600-6434400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:6430600-6435400	Genic enhancers	Fetal Intestine Large	intestine
20	chr7:6430600-6435800	Genic enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:6430600-6436000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:6430600-6436000	Genic enhancers	Fetal Intestine Small	intestine
23	chr7:6430600-6436200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6430600-6436400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:6430800-6434400	Genic enhancers	NHDF-Ad	bronchial
26	chr7:6431000-6434200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:6431200-6434000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:6431200-6434200	Strong transcription	Brain Germinal Matrix	brain
29	chr7:6431400-6434200	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr7:6431400-6435800	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:6431400-6436200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:6431600-6434200	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr7:6431800-6434000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:6431800-6434200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:6431800-6434200	Genic enhancers	Brain Substantia Nigra	brain
36	chr7:6431800-6434400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:6431800-6434400	Genic enhancers	NHEK	skin
38	chr7:6431800-6436000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:6431800-6436400	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr7:6432000-6434200	Genic enhancers	HUVEC	blood vessel
41	chr7:6432000-6434400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr7:6432000-6434400	Strong transcription	Brain Anterior Caudate	brain
43	chr7:6432200-6434000	Enhancers	Fetal Heart	heart
44	chr7:6432200-6434200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:6432200-6434400	Genic enhancers	Liver	Liver
46	chr7:6432200-6436200	Genic enhancers	Lung	lung
47	chr7:6432400-6434000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:6432400-6434000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:6432400-6434200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:6432400-6434200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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