Variant report

Variant	rs73095025
Chromosome Location	chr2:231299304-231299305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:
2	chr2:231299092..231300895-chr2:231303797..231306064,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16827251	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827283	1.00[ASN][1000 genomes]
rs2052806	1.00[ASN][1000 genomes]
rs2396758	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136530	1.00[ASN][1000 genomes]
rs56401717	0.91[EUR][1000 genomes]
rs72983756	1.00[ASN][1000 genomes]
rs73095024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095038	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095039	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095041	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73998812	1.00[ASN][1000 genomes]
rs7591132	1.00[ASN][1000 genomes]
rs973505	0.88[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:80 , 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	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231284200-231304000	Weak transcription	NH-A	brain
4	chr2:231284600-231306200	Weak transcription	HMEC	breast
5	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
6	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
7	chr2:231289000-231299400	Weak transcription	NHLF	lung
8	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
9	chr2:231291200-231299600	Weak transcription	NHEK	skin
10	chr2:231294000-231300400	Weak transcription	HUVEC	blood vessel
11	chr2:231294000-231301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:231294600-231299400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:231294800-231299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:231295200-231301000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:231295400-231300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:231295400-231306400	Weak transcription	HSMM	muscle
20	chr2:231295600-231299800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:231295600-231301000	Weak transcription	Placenta	Placenta
22	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
24	chr2:231296000-231300200	Weak transcription	Liver	Liver
25	chr2:231296000-231300400	Weak transcription	Pancreas	Pancrea
26	chr2:231296000-231300400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
28	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:231296200-231300200	Weak transcription	Fetal Thymus	thymus
30	chr2:231296200-231300400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:231296200-231300400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:231296200-231300400	Weak transcription	Left Ventricle	heart
33	chr2:231296200-231300400	Weak transcription	Thymus	Thymus
34	chr2:231296200-231301200	Weak transcription	Lung	lung
35	chr2:231296200-231301200	Weak transcription	Ovary	ovary
36	chr2:231296200-231308400	Weak transcription	Gastric	stomach
37	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
38	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
39	chr2:231296400-231299400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:231296400-231300200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:231296400-231300200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:231296400-231300400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:231296400-231300600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:231296600-231299400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:231296600-231300600	Weak transcription	Primary T cells from cord blood	blood
47	chr2:231296600-231303800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr2:231296800-231299400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:231296800-231300200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:231296800-231300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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