Variant report

Variant	rs7579070
Chromosome Location	chr2:231306061-231306062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231281967..231284273-chr2:231304753..231307439,2	K562	blood:
2	chr2:231299092..231300895-chr2:231303797..231306064,2	K562	blood:
3	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6712865	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719971	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745703	1.00[AMR][1000 genomes]
rs6746353	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102804	1.00[AMR][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3448154	chr2:231306014-231306599	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284600-231306200	Weak transcription	HMEC	breast
3	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
4	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
5	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
6	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:231295400-231306400	Weak transcription	HSMM	muscle
10	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
12	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
13	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:231296200-231308400	Weak transcription	Gastric	stomach
15	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
16	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
17	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:231299600-231308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:231301400-231306200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:231301400-231307600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:231301400-231307600	Weak transcription	Fetal Thymus	thymus
22	chr2:231301400-231307600	Weak transcription	Left Ventricle	heart
23	chr2:231301400-231307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:231301400-231308400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:231301400-231309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:231301400-231309200	Weak transcription	Lung	lung
27	chr2:231301400-231309200	Weak transcription	Ovary	ovary
28	chr2:231301400-231309200	Weak transcription	Pancreas	Pancrea
29	chr2:231301400-231314400	Weak transcription	Psoas Muscle	Psoas
30	chr2:231301600-231307600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:231301800-231307400	Weak transcription	Liver	Liver
32	chr2:231301800-231307600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:231301800-231307600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:231301800-231307600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:231301800-231307800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:231301800-231308000	Weak transcription	Placenta	Placenta
37	chr2:231301800-231309200	Weak transcription	Fetal Lung	lung
38	chr2:231301800-231312000	Weak transcription	HepG2	liver
39	chr2:231301800-231345000	Weak transcription	A549	lung
40	chr2:231302600-231307400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:231302600-231308000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:231303600-231306200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:231303600-231306400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:231303600-231307800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:231303800-231306200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:231303800-231307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:231303800-231307800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:231304000-231306200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:231304000-231306200	Enhancers	Primary hematopoietic stem cells	blood

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