Variant report

Variant	rs72905143
Chromosome Location	chr2:187546223-187546224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10931252	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10931254	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1123176	0.88[ASN][1000 genomes]
rs11678136	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11683459	0.93[ASN][1000 genomes]
rs11684356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684434	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11684626	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11695399	0.97[ASN][1000 genomes]
rs11885414	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885416	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891192	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11891461	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902171	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903048	0.88[ASN][1000 genomes]
rs12612335	0.97[ASN][1000 genomes]
rs12614008	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617531	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619357	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621915	0.97[ASN][1000 genomes]
rs16828148	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16828163	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16828175	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828182	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16828214	0.88[ASN][1000 genomes]
rs2595389	0.95[ASN][1000 genomes]
rs2887831	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213963	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36079004	0.81[ASN][1000 genomes]
rs3738919	0.93[ASN][1000 genomes]
rs3768784	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3768787	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3795865	0.88[ASN][1000 genomes]
rs3820739	0.88[ASN][1000 genomes]
rs3886170	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58757504	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61762241	0.88[ASN][1000 genomes]
rs61764186	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61764188	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61764575	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61764576	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61764580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61765186	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72905150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905154	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905160	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905169	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584329	0.88[ASN][1000 genomes]
rs7589682	0.93[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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187507800-187546600	Weak transcription	Small Intestine	intestine
3	chr2:187511400-187546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:187513800-187546800	Strong transcription	NH-A	brain
5	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
6	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:187527600-187546400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
10	chr2:187536200-187546800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:187536400-187550000	Weak transcription	Gastric	stomach
13	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:187538000-187547200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:187538200-187547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
18	chr2:187538600-187547000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:187539400-187548400	Weak transcription	Spleen	Spleen
21	chr2:187540000-187548600	Weak transcription	Fetal Kidney	kidney
22	chr2:187540400-187546600	Weak transcription	K562	blood
23	chr2:187540400-187548200	Weak transcription	GM12878-XiMat	blood
24	chr2:187541400-187548600	Weak transcription	Colonic Mucosa	Colon
25	chr2:187541600-187548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:187541600-187550800	Weak transcription	Lung	lung
27	chr2:187541800-187546400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:187541800-187548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:187541800-187548200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:187541800-187548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:187541800-187548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:187541800-187548600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
34	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
36	chr2:187542000-187546400	Weak transcription	HMEC	breast
37	chr2:187542000-187546600	Weak transcription	Primary T cells from cord blood	blood
38	chr2:187542000-187547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
40	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
41	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:187542200-187546400	Weak transcription	Ovary	ovary
44	chr2:187542200-187547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:187542400-187548000	Weak transcription	HepG2	liver
46	chr2:187542400-187548200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:187542600-187546800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:187542600-187547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:187542600-187548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:187542600-187549000	Weak transcription	Muscle Satellite Cultured Cells	--

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