Variant report

Variant	rs2647454
Chromosome Location	chr1:220208492-220208493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220196455..220198448-chr1:220208352..220209875,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10442684	0.87[EUR][1000 genomes]
rs1059140	1.00[JPT][hapmap]
rs10746395	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10746396	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779395	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10779396	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11547779	1.00[JPT][hapmap]
rs12141971	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12142009	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1566252	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1611961	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1612144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614384	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614585	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614719	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1622508	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1658226	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1658227	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1694576	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694599	0.84[EUR][1000 genomes]
rs1694600	0.84[EUR][1000 genomes]
rs1768665	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1768667	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1768669	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1768670	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1768671	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1768674	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1768676	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1768677	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874810	0.82[EUR][1000 genomes]
rs2230301	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245457	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248466	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248479	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248717	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248719	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289189	1.00[JPT][hapmap]
rs2577138	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577139	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577140	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577141	0.87[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577142	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577144	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577145	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577146	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577147	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577148	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577149	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577150	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577151	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2577156	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2577158	0.88[EUR][1000 genomes]
rs2577159	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577160	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577163	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2577165	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647420	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647421	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2647422	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647423	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647424	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647426	0.89[EUR][1000 genomes]
rs2647427	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2647428	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647429	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647430	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647431	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2647432	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647433	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647434	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647438	0.84[EUR][1000 genomes]
rs2647441	0.81[EUR][1000 genomes]
rs2647445	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647446	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647447	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647448	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647449	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647451	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647452	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647455	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647456	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647457	0.91[EUR][1000 genomes]
rs2647462	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2647467	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2647469	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647470	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647478	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647479	0.88[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes]
rs2789793	0.85[EUR][1000 genomes]
rs2789794	0.88[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs2789797	0.96[EUR][1000 genomes]
rs2789800	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789802	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789803	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789806	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2789807	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789808	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2789809	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789810	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2789811	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789812	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789813	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789815	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789816	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789817	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2789819	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795310	0.96[EUR][1000 genomes]
rs2795314	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2795315	0.82[EUR][1000 genomes]
rs3767655	1.00[JPT][hapmap]
rs41274790	0.94[ASN][1000 genomes]
rs6541120	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6681055	0.86[EUR][1000 genomes]
rs6681471	0.95[EUR][1000 genomes]
rs6681474	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6703042	0.93[EUR][1000 genomes]
rs7537058	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7545314	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7548397	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7550249	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	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
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
3	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
4	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
8	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
9	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
10	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
15	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
16	chr1:220196400-220211600	Weak transcription	Gastric	stomach
17	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
20	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
21	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
22	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
24	chr1:220200800-220210200	Strong transcription	Dnd41	blood
25	chr1:220201000-220208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:220201000-220209200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:220201200-220208600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:220201400-220208600	Strong transcription	K562	blood
29	chr1:220201400-220208800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr1:220201600-220208600	Strong transcription	HSMM	muscle
31	chr1:220201600-220209200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:220202000-220208600	Strong transcription	Hela-S3	cervix
33	chr1:220202000-220208800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:220202200-220210200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:220202400-220209200	Strong transcription	Fetal Intestine Large	intestine
36	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:220205000-220212200	Weak transcription	Fetal Kidney	kidney
38	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
39	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:220206200-220209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:220206200-220212000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:220206200-220212000	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:220206400-220209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:220206600-220209200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:220206600-220209800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:220206600-220211600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:220206600-220211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:220206600-220211600	Weak transcription	Left Ventricle	heart
49	chr1:220206600-220211800	Weak transcription	Ovary	ovary
50	chr1:220206600-220211800	Weak transcription	Thymus	Thymus

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