Variant report

Variant	rs7810883
Chromosome Location	chr7:127684479-127684480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127679314..127682339-chr7:127683889..127685998,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1108809	0.97[ASN][1000 genomes]
rs11977684	0.87[EUR][1000 genomes]
rs2402873	0.82[AFR][1000 genomes]
rs4728082	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4728084	0.97[ASN][1000 genomes]
rs4728085	0.97[ASN][1000 genomes]
rs4731390	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4731392	0.91[ASN][1000 genomes]
rs55998540	0.87[EUR][1000 genomes]
rs6949446	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966724	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800110	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127670400-127698800	Weak transcription	Dnd41	blood
4	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
5	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
10	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
11	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
12	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:127673600-127692200	Weak transcription	Gastric	stomach
14	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:127674600-127692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:127675000-127685400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:127675200-127692200	Weak transcription	Pancreas	Pancrea
19	chr7:127675200-127695200	Weak transcription	Psoas Muscle	Psoas
20	chr7:127675800-127692800	Weak transcription	Fetal Lung	lung
21	chr7:127676600-127685600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:127679600-127685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:127680000-127697600	Weak transcription	Thymus	Thymus
25	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:127681200-127693200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:127681800-127685800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:127681800-127685800	Weak transcription	NHDF-Ad	bronchial
32	chr7:127681800-127685800	Weak transcription	NHEK	skin
33	chr7:127682000-127685000	Strong transcription	HSMM	muscle
34	chr7:127682000-127685000	Weak transcription	NH-A	brain
35	chr7:127682000-127685200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:127682000-127685600	Weak transcription	HMEC	breast
37	chr7:127682000-127685600	Weak transcription	HUVEC	blood vessel
38	chr7:127682000-127692000	Weak transcription	HSMMtube	muscle
39	chr7:127682000-127695400	Weak transcription	NHLF	lung
40	chr7:127682200-127685000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:127682200-127685200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:127682200-127685600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:127682200-127691200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:127682400-127685400	Weak transcription	Osteobl	bone
45	chr7:127682600-127684800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:127682600-127685000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:127682600-127685200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:127682600-127685400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:127682600-127692200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:127682600-127693800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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