Variant report

Variant	rs73976515
Chromosome Location	chr2:172663759-172663760
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	chr2:172662562..172664946-chr2:172668087..172670019,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13385135	1.00[AMR][1000 genomes]
rs1515813	1.00[AMR][1000 genomes]
rs2176148	1.00[AMR][1000 genomes]
rs312923	1.00[AMR][1000 genomes]
rs4668408	1.00[AMR][1000 genomes]
rs4668409	1.00[AMR][1000 genomes]
rs61384579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6746051	1.00[AMR][1000 genomes]
rs73976508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976541	1.00[AMR][1000 genomes]
rs73976543	1.00[AMR][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
4	chr2:172642200-172665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
7	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:172644000-172667000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172644200-172666600	Weak transcription	Placenta	Placenta
10	chr2:172644400-172666000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
13	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:172648200-172666000	Weak transcription	Fetal Brain Female	brain
16	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
19	chr2:172648400-172671000	Weak transcription	Psoas Muscle	Psoas
20	chr2:172648400-172671200	Weak transcription	Right Ventricle	heart
21	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
24	chr2:172649000-172687400	Weak transcription	Gastric	stomach
25	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:172650400-172665600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:172650400-172666000	Weak transcription	GM12878-XiMat	blood
28	chr2:172650400-172666600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172650400-172671200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:172650400-172671400	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:172650400-172687600	Weak transcription	Lung	lung
35	chr2:172650600-172669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:172651000-172664200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:172651800-172664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
39	chr2:172652000-172666800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:172652400-172664400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
42	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:172655400-172687400	Weak transcription	A549	lung
44	chr2:172655600-172664000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:172655600-172667200	Weak transcription	NHLF	lung
46	chr2:172655600-172669800	Weak transcription	HSMMtube	muscle
47	chr2:172655600-172674600	Weak transcription	HSMM	muscle
48	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
49	chr2:172655600-172687400	Weak transcription	NH-A	brain
50	chr2:172655800-172667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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