Variant report

Variant	rs2422008
Chromosome Location	chr2:63780605-63780606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63773135..63775476-chr2:63779665..63782644,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS54-8	chr2:63779650-63781836	NONHSAT071060

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10164844	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs10171190	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10191163	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10200146	0.85[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10209490	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1022351	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1022353	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1033253	0.81[ASN][1000 genomes]
rs10496102	0.86[JPT][hapmap]
rs11125979	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs11676682	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs11687234	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs11694892	0.81[CHB][hapmap]
rs12104978	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12470121	0.89[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap]
rs12470478	0.86[JPT][hapmap]
rs12478262	0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap]
rs12995715	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs13025357	0.85[ASW][hapmap]
rs13409031	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[ASN][1000 genomes]
rs13422170	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1568174	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1869700	0.80[ASN][1000 genomes]
rs1878505	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2028886	0.86[CHB][hapmap]
rs2034270	0.86[CHB][hapmap]
rs2138791	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs2168274	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2178678	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[ASN][1000 genomes]
rs2421890	0.86[ASN][1000 genomes]
rs2421891	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2421892	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2421954	0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs262496	0.90[CHB][hapmap]
rs262498	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs2901581	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs33977056	0.85[ASW][hapmap]
rs3754540	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs4671061	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4671501	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap]
rs4671502	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs4671506	0.92[CEU][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap]
rs4671507	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap]
rs4671511	0.94[ASN][1000 genomes]
rs6546003	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs6731136	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs6731877	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6735907	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6737621	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs6756850	0.93[ASN][1000 genomes]
rs7598973	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs8179835	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.90[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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63772800-63788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:63773200-63783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:63777600-63782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:63777600-63783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:63777600-63784400	Weak transcription	Gastric	stomach
7	chr2:63778800-63781800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:63778800-63794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:63779000-63782000	Weak transcription	Lung	lung
10	chr2:63779800-63780800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:63779800-63781000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:63779800-63781000	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:63780000-63780800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:63780000-63780800	Enhancers	HSMM	muscle
15	chr2:63780000-63781000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:63780000-63781000	Enhancers	Osteobl	bone
17	chr2:63780200-63780800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:63780200-63782000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:63780200-63782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:63780200-63783400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:63780200-63786000	Weak transcription	Fetal Lung	lung
22	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
23	chr2:63780400-63785800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:63780600-63781000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:63780600-63782200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:63780600-63782200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:63780600-63784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:63780600-63785800	Weak transcription	Adipose Nuclei	Adipose

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