Variant report

Variant	rs11119918
Chromosome Location	chr1:212508070-212508071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:212507910-212508322	U2OS	brain:	n/a	n/a
2	POLR2A	chr1:212508006-212508145	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212507727..212512410-chr1:212514335..212517605,4	K562	blood:

Variant related genes	Relation type
ENSG00000234915	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1011232	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs1056985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10863965	0.95[CHB][hapmap]
rs11119890	1.00[CEU][hapmap]
rs11119903	0.81[ASN][1000 genomes]
rs11119907	0.89[ASN][1000 genomes]
rs11119908	0.91[ASN][1000 genomes]
rs11119910	0.91[ASN][1000 genomes]
rs11119921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11119927	0.87[ASN][1000 genomes]
rs11119928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11119932	0.95[CHB][hapmap]
rs11119934	0.95[CHB][hapmap]
rs12024457	1.00[CEU][hapmap]
rs12031941	0.81[ASN][1000 genomes]
rs12116770	1.00[AFR][1000 genomes]
rs12118709	1.00[ASN][1000 genomes]
rs12118732	0.84[ASN][1000 genomes]
rs12119183	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12119779	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12124582	0.85[ASN][1000 genomes]
rs12127954	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[MEX][hapmap];1.00[AFR][1000 genomes]
rs12128123	0.94[ASN][1000 genomes]
rs12128965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12129267	0.91[ASN][1000 genomes]
rs12133134	1.00[CEU][hapmap]
rs12133582	0.95[CHB][hapmap]
rs12133636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12134074	0.84[ASN][1000 genomes]
rs12134276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12134599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136095	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12137798	0.89[ASN][1000 genomes]
rs12138533	0.97[ASN][1000 genomes]
rs12140158	0.99[ASN][1000 genomes]
rs12141427	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12143853	0.91[ASN][1000 genomes]
rs12145170	0.96[ASN][1000 genomes]
rs12145484	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12239580	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12403586	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs12561785	0.91[ASN][1000 genomes]
rs12562618	0.84[ASN][1000 genomes]
rs1342152	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs14123	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1493601	0.84[ASN][1000 genomes]
rs17019129	1.00[CEU][hapmap]
rs1808986	0.87[ASN][1000 genomes]
rs2166155	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2236598	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2298115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3754142	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs3754144	0.95[CHB][hapmap]
rs3767867	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs3767868	0.95[CHB][hapmap]
rs3767870	1.00[CEU][hapmap]
rs3820513	1.00[CHB][hapmap];0.80[CHD][hapmap];0.82[ASN][1000 genomes]
rs4548507	0.87[ASN][1000 genomes]
rs4951597	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212467400-212526000	Weak transcription	A549	lung
2	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
3	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
4	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
5	chr1:212493800-212533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:212498000-212526200	Weak transcription	Fetal Brain Male	brain
7	chr1:212499800-212525400	Weak transcription	Gastric	stomach
8	chr1:212500000-212540400	Weak transcription	Stomach Mucosa	stomach
9	chr1:212501000-212533600	Weak transcription	Fetal Heart	heart
10	chr1:212501400-212525800	Weak transcription	Pancreas	Pancrea
11	chr1:212501400-212526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:212501400-212540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:212501800-212510800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:212501800-212540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:212502000-212508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:212502200-212516600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:212502200-212526000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:212502400-212528200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:212502600-212512000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:212502800-212509800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:212502800-212514000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:212502800-212541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:212503000-212519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:212504200-212525600	Weak transcription	Spleen	Spleen
28	chr1:212504400-212509000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:212504400-212537600	Weak transcription	Psoas Muscle	Psoas
30	chr1:212504600-212513800	Strong transcription	Liver	Liver
31	chr1:212504800-212525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:212504800-212526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:212505000-212525600	Weak transcription	Colonic Mucosa	Colon
34	chr1:212505200-212510200	Strong transcription	Primary B cells from cord blood	blood
35	chr1:212505200-212531400	Weak transcription	HMEC	breast
36	chr1:212505400-212509200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:212505400-212513400	Strong transcription	Fetal Thymus	thymus
38	chr1:212505600-212510800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:212505600-212513200	Strong transcription	Dnd41	blood
40	chr1:212505800-212520200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:212505800-212533200	Weak transcription	NH-A	brain
42	chr1:212506000-212514800	Strong transcription	Adipose Nuclei	Adipose
43	chr1:212506200-212509800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:212506200-212512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:212506200-212518400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:212506400-212508200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:212506400-212508200	Strong transcription	Placenta	Placenta
48	chr1:212506400-212508200	Strong transcription	Lung	lung
49	chr1:212506400-212508200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:212506400-212508800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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