Variant report

Variant	rs6967758
Chromosome Location	chr7:126990945-126990946
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	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11563401	1.00[EUR][1000 genomes]
rs17864150	1.00[JPT][hapmap]
rs17864970	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17865002	1.00[YRI][hapmap]
rs17865287	0.93[YRI][hapmap]
rs17865875	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17866821	1.00[YRI][hapmap]
rs17866822	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17867128	1.00[YRI][hapmap]
rs17867143	1.00[YRI][hapmap]
rs17869260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17869262	1.00[YRI][hapmap]
rs17869348	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17875009	1.00[EUR][1000 genomes]
rs28947796	1.00[EUR][1000 genomes]
rs4731347	1.00[JPT][hapmap]
rs6948167	1.00[EUR][1000 genomes]
rs73445355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987200-126995400	Weak transcription	Dnd41	blood
3	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
4	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:126988400-126991800	Weak transcription	HSMM	muscle
6	chr7:126988400-126993800	Weak transcription	Liver	Liver
7	chr7:126988400-126994600	Weak transcription	K562	blood
8	chr7:126988400-126995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:126988400-126995200	Weak transcription	HMEC	breast
10	chr7:126988400-126995400	Weak transcription	Primary B cells from cord blood	blood
11	chr7:126988400-126995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:126988400-126995600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:126988400-126996000	Weak transcription	NHDF-Ad	bronchial
14	chr7:126988400-126996800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:126988400-126997000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:126988400-126997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:126988400-126997000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:126988400-126997000	Weak transcription	Osteobl	bone
19	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
21	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
24	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
28	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
29	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
32	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
43	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
44	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
45	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
47	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
48	chr7:126988400-127001000	Weak transcription	Lung	lung
49	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
50	chr7:126988400-127001000	Weak transcription	Thymus	Thymus

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