Variant report

Variant	rs1607253
Chromosome Location	chr2:172626238-172626239
allele	A/G
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: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10177679	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10179020	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184770	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10185633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10191399	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10196521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201520	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1022358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10432474	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930493	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930497	1.00[CEU][hapmap]
rs1105264	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677573	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11678892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11692418	1.00[JPT][hapmap]
rs11887208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11903123	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464262	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467010	0.84[EUR][1000 genomes]
rs12471160	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478189	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12479374	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12617265	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs12619137	1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs12692971	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12692979	1.00[JPT][hapmap]
rs13012103	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017988	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs13021571	0.84[ASN][1000 genomes]
rs13399316	0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs1400816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515812	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1517678	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554165	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17580984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17614989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17615013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1810338	0.80[AMR][1000 genomes]
rs1850031	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982288	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1996425	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028672	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2037164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056202	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2176466	1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2292813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2357064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2357206	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2357207	0.84[EUR][1000 genomes]
rs2357208	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs28372952	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs312915	0.81[AFR][1000 genomes]
rs312917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770444	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770453	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs3770457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	0.89[JPT][hapmap]
rs4507064	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668413	0.84[ASN][1000 genomes]
rs4668416	0.80[AFR][1000 genomes]
rs4668417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58565148	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59414074	0.93[AFR][1000 genomes]
rs60706248	0.84[EUR][1000 genomes]
rs61588295	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6433312	0.82[AMR][1000 genomes]
rs6433313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433316	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs6433318	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6711813	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6736159	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6740705	1.00[JPT][hapmap]
rs6742905	0.86[EUR][1000 genomes]
rs6753551	0.81[EUR][1000 genomes]
rs6753859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757680	0.88[JPT][hapmap]
rs6758494	1.00[JPT][hapmap]
rs6760680	1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs7340516	1.00[JPT][hapmap]
rs7574090	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7574711	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7579509	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7580132	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7580232	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7583860	0.84[ASN][1000 genomes]
rs7588025	1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs7588351	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594478	1.00[JPT][hapmap]
rs7597525	0.84[EUR][1000 genomes]
rs925881	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9287948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs949548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636293	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs970948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][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:61 , 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	chr2:172618800-172640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:172619000-172627800	Weak transcription	Dnd41	blood
14	chr2:172619000-172630600	Weak transcription	Lung	lung
15	chr2:172619000-172638800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:172619000-172641000	Weak transcription	Spleen	Spleen
17	chr2:172619200-172627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:172619200-172632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:172619200-172634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:172619200-172635000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:172619200-172635200	Weak transcription	A549	lung
22	chr2:172619200-172638600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:172619200-172640800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:172619200-172641000	Weak transcription	Thymus	Thymus
25	chr2:172619200-172641600	Weak transcription	Gastric	stomach
26	chr2:172619200-172641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:172619400-172627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:172619400-172627000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:172619600-172640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:172619800-172626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:172620000-172634200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:172620200-172627200	Weak transcription	Liver	Liver
33	chr2:172620200-172627200	Weak transcription	Fetal Intestine Small	intestine
34	chr2:172620200-172630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:172620200-172634600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:172620200-172641400	Weak transcription	NHEK	skin
37	chr2:172620400-172626800	Weak transcription	NH-A	brain
38	chr2:172620400-172627600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:172620400-172638600	Weak transcription	Primary B cells from cord blood	blood
40	chr2:172620400-172638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:172620400-172638600	Weak transcription	HSMM	muscle
42	chr2:172620400-172641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:172620400-172641600	Weak transcription	HUVEC	blood vessel
44	chr2:172620400-172641800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:172620600-172640000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:172620800-172627200	Weak transcription	HepG2	liver
47	chr2:172620800-172634600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172620800-172634600	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:172620800-172634800	Weak transcription	NHDF-Ad	bronchial
50	chr2:172620800-172639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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