Variant report

Variant	rs1082022
Chromosome Location	chr7:40006593-40006594
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	chr7:39999018..40002091-chr7:40005223..40009207,3	K562	blood:
2	chr7:40005726..40008469-chr7:40010129..40013269,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1082021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[AMR][1000 genomes]
rs1829909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs55913371	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs773380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773408	1.00[AMR][1000 genomes]
rs773416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs808913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942572	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:39994200-40027200	Weak transcription	HSMM	muscle
4	chr7:39994600-40009000	Weak transcription	HMEC	breast
5	chr7:39994800-40006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:39994800-40008000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:39994800-40008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:39994800-40008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:39994800-40008400	Weak transcription	NHEK	skin
10	chr7:39994800-40018000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:39995000-40008000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:39995000-40009000	Weak transcription	Osteobl	bone
13	chr7:39995000-40018200	Weak transcription	Spleen	Spleen
14	chr7:39995200-40009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:39995200-40010400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:39995200-40042600	Weak transcription	K562	blood
17	chr7:39995600-40007800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:39996000-40008800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:39996600-40008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:39996800-40006600	Weak transcription	Left Ventricle	heart
21	chr7:39996800-40008000	Weak transcription	Pancreas	Pancrea
22	chr7:39996800-40014800	Weak transcription	Right Ventricle	heart
23	chr7:39996800-40016600	Weak transcription	Gastric	stomach
24	chr7:39997200-40015200	Weak transcription	Small Intestine	intestine
25	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
27	chr7:39998200-40006600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:39998200-40007000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:39998200-40007800	Weak transcription	Brain Substantia Nigra	brain
30	chr7:39998200-40008000	Weak transcription	Primary T cells from cord blood	blood
31	chr7:39998200-40009000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:39998200-40009800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:39998200-40010400	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:39998200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:39998400-40007800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:39998400-40010200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:39998600-40006600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:39999400-40007200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:39999800-40006600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:39999800-40013600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:40000400-40016600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:40000600-40011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:40000800-40006600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:40001000-40006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:40001000-40006600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:40001000-40006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:40001000-40006800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:40001000-40008800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:40001000-40009600	Weak transcription	Ovary	ovary
50	chr7:40001000-40010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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