Variant report

Variant	rs12622772
Chromosome Location	chr2:172625737-172625738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172625697-172626538	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172624804..172627383-chr2:172628518..172631199,2	K562	blood:

Variant related genes	Relation type
ENSG00000228389	TF binding region
ENSG00000228389	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12053046	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12612105	0.86[CHB][hapmap]
rs12614709	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12619041	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12620126	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12622385	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12622895	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12624292	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17581361	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17581439	0.82[EUR][1000 genomes]
rs17581481	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17615262	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17615352	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2176465	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3736499	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3765166	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3765167	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770448	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770449	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3770455	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3796000	0.82[CHB][hapmap]
rs3821093	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55957712	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56275355	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57718990	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57775770	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62182370	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62182372	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62182373	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62182374	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62182392	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72881938	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72885532	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72885545	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72889848	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7584258	0.92[AMR][1000 genomes];0.92[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
2	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:172604400-172641200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:172607400-172627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:172609600-172628800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:172618000-172626400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:172618000-172639600	Weak transcription	Fetal Heart	heart
10	chr2:172618400-172639800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:172618400-172641000	Weak transcription	Aorta	Aorta
12	chr2:172618800-172625800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:172618800-172640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:172619000-172627800	Weak transcription	Dnd41	blood
15	chr2:172619000-172630600	Weak transcription	Lung	lung
16	chr2:172619000-172638800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:172619000-172641000	Weak transcription	Spleen	Spleen
18	chr2:172619200-172627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:172619200-172632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:172619200-172634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:172619200-172635000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:172619200-172635200	Weak transcription	A549	lung
23	chr2:172619200-172638600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:172619200-172640800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:172619200-172641000	Weak transcription	Thymus	Thymus
26	chr2:172619200-172641600	Weak transcription	Gastric	stomach
27	chr2:172619200-172641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:172619400-172626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:172619400-172627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:172619400-172627000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:172619600-172640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:172619800-172626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:172620000-172634200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:172620200-172625800	Weak transcription	Fetal Stomach	stomach
35	chr2:172620200-172627200	Weak transcription	Liver	Liver
36	chr2:172620200-172627200	Weak transcription	Fetal Intestine Small	intestine
37	chr2:172620200-172630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:172620200-172634600	Weak transcription	Brain Angular Gyrus	brain
39	chr2:172620200-172641400	Weak transcription	NHEK	skin
40	chr2:172620400-172626800	Weak transcription	NH-A	brain
41	chr2:172620400-172627600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:172620400-172638600	Weak transcription	Primary B cells from cord blood	blood
43	chr2:172620400-172638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:172620400-172638600	Weak transcription	HSMM	muscle
45	chr2:172620400-172641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:172620400-172641600	Weak transcription	HUVEC	blood vessel
47	chr2:172620400-172641800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:172620600-172626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:172620600-172640000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:172620800-172627200	Weak transcription	HepG2	liver

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