Variant report

Variant	rs73976160
Chromosome Location	chr2:172320831-172320832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172318733..172322124-chr2:172322781..172324882,3	K562	blood:
2	chr2:172287825..172292299-chr2:172318757..172322231,4	K562	blood:
3	chr2:172320298..172323266-chr2:172328562..172330694,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16823212	1.00[EUR][1000 genomes]
rs2674496	1.00[EUR][1000 genomes]
rs28453686	0.95[AFR][1000 genomes]
rs3731979	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3795997	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56392714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57580465	1.00[EUR][1000 genomes]
rs59019079	0.90[AFR][1000 genomes]
rs59195571	0.85[AFR][1000 genomes]
rs59827170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60018506	1.00[EUR][1000 genomes]
rs60601337	0.80[AFR][1000 genomes]
rs62183544	0.87[ASN][1000 genomes]
rs6729749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976164	0.97[AFR][1000 genomes]
rs73976165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976168	0.85[AFR][1000 genomes]
rs73976170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560091	1.00[EUR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
4	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
6	chr2:172298400-172326200	Weak transcription	NHEK	skin
7	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
8	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172298600-172341400	Weak transcription	NHLF	lung
10	chr2:172299400-172325400	Weak transcription	Gastric	stomach
11	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:172304800-172325200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:172304800-172325200	Weak transcription	Pancreas	Pancrea
14	chr2:172304800-172330000	Weak transcription	NH-A	brain
15	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:172305000-172326400	Weak transcription	Lung	lung
17	chr2:172305800-172325200	Weak transcription	Aorta	Aorta
18	chr2:172305800-172325400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:172306800-172325200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:172306800-172325800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
23	chr2:172307400-172325400	Weak transcription	Thymus	Thymus
24	chr2:172307600-172325800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:172307600-172325800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:172307800-172325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
28	chr2:172308200-172325800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:172309400-172325800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:172309600-172325400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
32	chr2:172309800-172325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172309800-172325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:172311400-172322000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:172312000-172325400	Weak transcription	Fetal Stomach	stomach
36	chr2:172312000-172325800	Weak transcription	Fetal Brain Male	brain
37	chr2:172312400-172325400	Weak transcription	Brain Substantia Nigra	brain
38	chr2:172312600-172326800	Weak transcription	Ovary	ovary
39	chr2:172313000-172325400	Weak transcription	Fetal Brain Female	brain
40	chr2:172313000-172325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:172313200-172325600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:172314600-172326400	Weak transcription	Spleen	Spleen
44	chr2:172314600-172326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:172315000-172321800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:172315000-172325200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:172315000-172325400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:172315000-172325400	Weak transcription	Placenta	Placenta
49	chr2:172315000-172325400	Weak transcription	Left Ventricle	heart
50	chr2:172315000-172326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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