Variant report

Variant	rs1878505
Chromosome Location	chr2:63666590-63666591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10164844	0.85[CHB][hapmap];0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs10171190	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10200146	0.81[CHB][hapmap]
rs10209490	0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1022351	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1022353	0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1033253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125968	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11125979	0.90[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs11676682	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687234	0.85[CHB][hapmap]
rs11694795	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11694892	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12470121	0.85[CHB][hapmap]
rs12478262	0.85[CHB][hapmap]
rs12987806	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12995715	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13409031	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs13422170	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1568174	0.85[CHB][hapmap]
rs1807843	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2028886	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs2034270	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs2138791	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2178678	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2421890	0.85[ASN][1000 genomes]
rs2421891	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2421892	0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2421954	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2422008	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs262496	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs262498	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs2901581	0.81[CHB][hapmap]
rs35516797	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3754540	0.82[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap]
rs4671061	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4671501	0.85[CHB][hapmap]
rs4671502	0.85[CHB][hapmap]
rs4671507	0.85[CHB][hapmap]
rs4671511	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62177834	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546003	0.85[CHB][hapmap]
rs6731136	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs6735907	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6737621	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6756850	0.84[ASN][1000 genomes]
rs7598973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8179835	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	nsv819228	chr2:63664455-63666590	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
2	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
5	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
6	chr2:63643000-63673200	Weak transcription	Left Ventricle	heart
7	chr2:63652600-63666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:63652600-63673800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:63653200-63673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:63654000-63668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:63654600-63670600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:63654600-63678200	Weak transcription	Psoas Muscle	Psoas
13	chr2:63655000-63679000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:63656200-63675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:63657400-63675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:63658600-63666800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:63658600-63669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:63658800-63668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:63658800-63674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:63659200-63679200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:63659600-63679000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:63659800-63667400	Weak transcription	A549	lung
23	chr2:63660400-63667400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:63661800-63673400	Weak transcription	Fetal Brain Female	brain
25	chr2:63662000-63698000	Weak transcription	Ovary	ovary
26	chr2:63662200-63667800	Weak transcription	Fetal Brain Male	brain
27	chr2:63662200-63681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:63663400-63667000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:63663400-63670600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:63664400-63667600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:63665800-63666600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:63666000-63666800	Weak transcription	Fetal Heart	heart
34	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood

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