Variant report

Variant	rs7762809
Chromosome Location	chr6:35387740-35387741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35386381..35389131-chr6:35434504..35437447,3	K562	blood:
2	chr6:35382683..35384184-chr6:35386582..35388142,2	K562	blood:
3	chr6:35310293..35313222-chr6:35385909..35387818,2	MCF-7	breast:
4	chr6:35376249..35378829-chr6:35387490..35390068,2	K562	blood:
5	chr6:35386287..35387905-chr6:35391814..35393487,2	MCF-7	breast:
6	chr6:35374653..35376818-chr6:35385902..35387934,2	K562	blood:
7	chr6:35386381..35389895-chr6:35435947..35439155,3	K562	blood:
8	chr6:35353907..35355834-chr6:35387583..35389412,2	K562	blood:
9	chr6:35385294..35388987-chr6:35389022..35393579,4	K562	blood:
10	chr6:35387457..35387973-chr6:35417155..35417800,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112033	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11961212	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11966736	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs16876572	0.89[ASW][hapmap]
rs6457821	0.89[ASW][hapmap];1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6911817	1.00[CEU][hapmap]
rs6919734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes]
rs6920146	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6937510	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs73413742	1.00[EUR][1000 genomes]
rs7750906	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7761870	1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7765510	1.00[CEU][hapmap]
rs7771474	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9658134	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv462907	chr6:35333799-35408959	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv602908	chr6:35333799-35408959	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470812	chr6:35374461-35418118	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
8	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active 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	55 gene(s)	inside rSNPs	diseases
9	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
10	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35370600-35393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:35377800-35395000	Weak transcription	K562	blood
3	chr6:35378800-35393400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35379800-35392600	Strong transcription	NHEK	skin
5	chr6:35380400-35392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:35380400-35392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:35381000-35389400	Weak transcription	HMEC	breast
8	chr6:35381200-35389600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:35382800-35390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:35383000-35394600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:35383000-35396800	Weak transcription	Right Atrium	heart
12	chr6:35383200-35388600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:35383400-35389400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:35383400-35389600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:35383400-35394800	Weak transcription	Fetal Kidney	kidney
16	chr6:35383400-35396600	Weak transcription	Stomach Mucosa	stomach
17	chr6:35383600-35389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:35383600-35389600	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:35383600-35392000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:35383600-35402600	Weak transcription	Fetal Heart	heart
21	chr6:35383800-35389400	Weak transcription	Fetal Brain Female	brain
22	chr6:35383800-35390600	Weak transcription	A549	lung
23	chr6:35383800-35391600	Weak transcription	Fetal Brain Male	brain
24	chr6:35384200-35388600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:35384200-35392800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:35384600-35389600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:35385200-35387800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:35385200-35388000	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr6:35385400-35387800	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:35385400-35388000	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:35385400-35388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:35385600-35387800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:35385600-35387800	Genic enhancers	Primary T cells from cord blood	blood
34	chr6:35385600-35387800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:35385600-35387800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr6:35385600-35387800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:35385600-35387800	Enhancers	Liver	Liver
38	chr6:35385600-35387800	Genic enhancers	Fetal Intestine Small	intestine
39	chr6:35385600-35387800	Enhancers	Fetal Thymus	thymus
40	chr6:35385600-35388000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:35385600-35388200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:35385600-35388200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:35385600-35388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:35385600-35388400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:35385600-35388400	Genic enhancers	Brain Hippocampus Middle	brain
46	chr6:35385600-35390400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr6:35385600-35392400	Strong transcription	Esophagus	oesophagus
48	chr6:35385800-35388000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:35385800-35388000	Genic enhancers	Thymus	Thymus
50	chr6:35385800-35388400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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