Variant report

Variant	rs2647468
Chromosome Location	chr1:220168633-220168634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220168435..220171336-chr1:220322060..220324695,2	K562	blood:
2	chr1:220164810..220167759-chr1:220168424..220170636,2	K562	blood:
3	chr1:220166855..220169233-chr1:220184126..220185704,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10442691	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10863527	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10863528	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1622508	0.88[CEU][hapmap]
rs1630386	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694575	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694577	0.82[CEU][hapmap]
rs1694601	0.87[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs1768666	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1768668	0.87[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs1768669	0.88[CEU][hapmap]
rs1768670	0.88[CEU][hapmap]
rs1768671	0.88[CEU][hapmap]
rs1768672	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1768673	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1768675	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2230301	0.88[CEU][hapmap]
rs2248479	0.88[CEU][hapmap]
rs2254494	0.82[JPT][hapmap];0.80[LWK][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs2577137	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577139	0.88[CEU][hapmap]
rs2577140	0.83[CEU][hapmap]
rs2577141	0.87[CEU][hapmap]
rs2577142	0.88[CEU][hapmap]
rs2577145	0.88[CEU][hapmap]
rs2577146	0.88[CEU][hapmap]
rs2577147	0.87[CEU][hapmap]
rs2577148	0.88[CEU][hapmap]
rs2577149	0.88[CEU][hapmap]
rs2577159	0.88[CEU][hapmap]
rs2577162	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2577164	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577165	0.82[CEU][hapmap]
rs2647422	0.88[CEU][hapmap]
rs2647425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2647433	0.88[CEU][hapmap]
rs2647435	0.81[AFR][1000 genomes]
rs2647436	0.87[JPT][hapmap]
rs2647453	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2647459	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2647462	0.88[CEU][hapmap]
rs2647479	0.88[CEU][hapmap]
rs2789794	0.88[CEU][hapmap]
rs2789796	0.87[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs2789798	0.81[AFR][1000 genomes]
rs2789799	0.90[JPT][hapmap];0.81[AFR][1000 genomes]
rs2789809	0.88[CEU][hapmap]
rs7539497	0.82[JPT][hapmap]
rs7545314	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
5	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
7	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
8	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220153600-220169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:220154200-220169200	Weak transcription	Fetal Brain Male	brain
11	chr1:220154400-220169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:220154400-220169200	Weak transcription	Fetal Lung	lung
13	chr1:220154600-220169000	Weak transcription	Small Intestine	intestine
14	chr1:220154600-220169200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220156800-220169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:220157000-220168800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
18	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
19	chr1:220159200-220168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:220159800-220169200	Weak transcription	Colonic Mucosa	Colon
21	chr1:220160800-220169200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:220160800-220174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:220161000-220168800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:220161000-220168800	Weak transcription	Thymus	Thymus
25	chr1:220161000-220169200	Weak transcription	Psoas Muscle	Psoas
26	chr1:220161000-220169200	Weak transcription	NHLF	lung
27	chr1:220161200-220168800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:220161200-220169200	Weak transcription	Left Ventricle	heart
29	chr1:220161600-220168800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:220161800-220168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:220162000-220168800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:220162000-220168800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:220162000-220169200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:220162000-220169200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:220162000-220175600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:220162200-220168800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:220162200-220168800	Weak transcription	HMEC	breast
38	chr1:220162200-220169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:220162200-220169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:220162800-220169600	Weak transcription	HUVEC	blood vessel
41	chr1:220163200-220168800	Weak transcription	HSMMtube	muscle
42	chr1:220163200-220168800	Weak transcription	NH-A	brain
43	chr1:220163200-220168800	Weak transcription	Osteobl	bone
44	chr1:220163600-220168800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:220164600-220169400	Weak transcription	Hela-S3	cervix
46	chr1:220164800-220173800	Strong transcription	HSMM	muscle
47	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:220165200-220169000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:220165200-220173000	Strong transcription	Primary T cells from cord blood	blood
50	chr1:220165400-220170600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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