Variant report

Variant	rs836469
Chromosome Location	chr7:6436518-6436519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6412448..6415033-chr7:6435116..6438429,3	MCF-7	breast:
2	chr7:6430584..6433273-chr7:6435099..6437752,2	K562	blood:
3	chr7:6414178..6415764-chr7:6434413..6437205,2	K562	blood:
4	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10225406	1.00[EUR][1000 genomes]
rs2689422	0.85[ASN][1000 genomes]
rs836475	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836481	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs836484	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836485	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836495	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836496	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836497	0.89[AMR][1000 genomes]
rs836501	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]
rs836553	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836555	0.89[AMR][1000 genomes];1.00[EUR][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	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	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6426800-6436600	Strong transcription	Dnd41	blood
5	chr7:6429600-6437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:6432600-6436600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:6432800-6438600	Enhancers	Left Ventricle	heart
8	chr7:6433200-6441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:6433400-6437600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:6433600-6436600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:6433600-6436600	Enhancers	Right Ventricle	heart
12	chr7:6433600-6437800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:6433600-6441200	Weak transcription	Fetal Kidney	kidney
14	chr7:6433800-6440600	Weak transcription	HSMMtube	muscle
15	chr7:6434000-6438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:6434000-6438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:6434000-6439600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:6434000-6439600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:6434200-6437800	Weak transcription	Brain Germinal Matrix	brain
20	chr7:6434200-6438000	Weak transcription	NH-A	brain
21	chr7:6434200-6438600	Weak transcription	Fetal Lung	lung
22	chr7:6434200-6441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:6434200-6441200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:6434400-6437600	Weak transcription	HMEC	breast
25	chr7:6434400-6437800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:6434400-6437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:6434400-6437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:6434400-6438600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:6434400-6439200	Weak transcription	NHDF-Ad	bronchial
30	chr7:6434400-6439600	Weak transcription	Aorta	Aorta
31	chr7:6434400-6440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:6434600-6437600	Weak transcription	HepG2	liver
33	chr7:6434600-6438800	Weak transcription	Primary T cells from cord blood	blood
34	chr7:6434800-6436600	Enhancers	Right Atrium	heart
35	chr7:6435400-6437800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:6435600-6437800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:6435600-6439600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:6435800-6437200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:6435800-6438000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:6435800-6438200	Weak transcription	Colonic Mucosa	Colon
41	chr7:6435800-6439200	Enhancers	Brain Hippocampus Middle	brain
42	chr7:6436000-6436600	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:6436000-6437000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:6436000-6437000	Weak transcription	Psoas Muscle	Psoas
45	chr7:6436000-6437000	Weak transcription	Spleen	Spleen
46	chr7:6436000-6437200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:6436000-6437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:6436000-6437200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:6436000-6437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:6436000-6437400	Weak transcription	Brain Angular Gyrus	brain

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