Variant report

Variant	rs7762508
Chromosome Location	chr6:39080857-39080858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:39080662-39080912	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
2	chr6:39079788..39082781-chr6:39111404..39113195,2	K562	blood:
3	chr6:39076068..39078448-chr6:39080385..39082607,3	MCF-7	breast:

Variant related genes	Relation type
SAYSD1	TF binding region
ENSG00000112167	Chromatin interaction
ENSG00000217165	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12199395	0.89[AFR][1000 genomes]
rs6902597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746615	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7760863	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39068200-39082000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:39069800-39081800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:39070200-39081600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:39070200-39081600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:39070200-39081800	Weak transcription	NH-A	brain
7	chr6:39070400-39081800	Weak transcription	HUVEC	blood vessel
8	chr6:39070800-39081400	Weak transcription	Osteobl	bone
9	chr6:39070800-39082000	Weak transcription	NHLF	lung
10	chr6:39071200-39081400	Weak transcription	NHEK	skin
11	chr6:39071200-39082000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:39071400-39081800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:39071600-39081600	Weak transcription	A549	lung
14	chr6:39071800-39082000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:39073400-39081400	Weak transcription	NHDF-Ad	bronchial
16	chr6:39073400-39081800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:39073400-39082000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:39073400-39082200	Weak transcription	Ovary	ovary
19	chr6:39073600-39081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:39073600-39081800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:39073600-39081800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:39073600-39082000	Weak transcription	Colonic Mucosa	Colon
23	chr6:39076800-39081600	Weak transcription	Fetal Brain Male	brain
24	chr6:39077000-39082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:39077000-39082000	Weak transcription	Stomach Mucosa	stomach
26	chr6:39077000-39082200	Weak transcription	Gastric	stomach
27	chr6:39077000-39082200	Weak transcription	Small Intestine	intestine
28	chr6:39077200-39081200	Weak transcription	Fetal Heart	heart
29	chr6:39077200-39082000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:39077200-39082000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:39077200-39082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:39077400-39081200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:39077400-39082200	Weak transcription	Pancreas	Pancrea
34	chr6:39077600-39081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:39077600-39081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:39077600-39081400	Weak transcription	Fetal Brain Female	brain
37	chr6:39077800-39081600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:39077800-39082200	Weak transcription	Esophagus	oesophagus
39	chr6:39078000-39081200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:39078000-39081200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:39078000-39081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:39078000-39081800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:39078000-39082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:39078000-39082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:39078200-39081200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:39078200-39081400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:39078200-39081400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:39078200-39081400	Weak transcription	HepG2	liver
49	chr6:39078200-39081600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:39078200-39081800	Weak transcription	Fetal Stomach	stomach

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