Variant report

Variant	rs4671504
Chromosome Location	chr2:63637260-63637261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10164844	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10171190	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10182889	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10191163	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10195862	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10209490	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1022351	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1022352	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1022353	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11125968	0.89[ASN][1000 genomes]
rs11687234	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694795	0.91[ASN][1000 genomes]
rs11694892	0.91[ASN][1000 genomes]
rs12465146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470121	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473110	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478262	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12987806	0.87[ASN][1000 genomes]
rs12996604	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020863	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409031	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13422170	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1568174	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1807843	0.91[ASN][1000 genomes]
rs1810333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966112	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028886	0.85[ASN][1000 genomes]
rs2034270	0.85[ASN][1000 genomes]
rs2138791	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2138793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138794	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176414	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2178678	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421890	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421891	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2421892	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2901581	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35516797	0.85[ASN][1000 genomes]
rs3754539	0.93[ASN][1000 genomes]
rs4471880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671061	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671501	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671502	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671506	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671507	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177834	0.91[ASN][1000 genomes]
rs6546003	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731136	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6735907	0.81[EUR][1000 genomes]
rs6745644	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756605	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756696	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761544	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72883636	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9749852	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9749863	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9749870	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9751845	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3382119	chr2:63634350-63660437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
2	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
3	chr2:63622200-63645400	Weak transcription	Liver	Liver
4	chr2:63624800-63642400	Weak transcription	Left Ventricle	heart
5	chr2:63626800-63644000	Weak transcription	Gastric	stomach
6	chr2:63627000-63637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
8	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:63629800-63637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:63631600-63644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:63631600-63652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:63631800-63637400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:63631800-63637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:63631800-63641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:63631800-63643200	Weak transcription	Dnd41	blood
17	chr2:63631800-63643800	Weak transcription	Pancreas	Pancrea
18	chr2:63631800-63645000	Weak transcription	Brain Substantia Nigra	brain
19	chr2:63631800-63652400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:63631800-63654600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:63631800-63661600	Weak transcription	Ovary	ovary
22	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
26	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
27	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:63633000-63649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
30	chr2:63634400-63652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:63634600-63641800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:63636000-63643800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:63636000-63651600	Weak transcription	Fetal Stomach	stomach
34	chr2:63636200-63638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:63637000-63637800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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