Variant report

Variant	rs11119889
Chromosome Location	chr1:212421052-212421053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212420552..212422423-chr1:212423039..212425557,2	K562	blood:
2	chr1:212414204..212417772-chr1:212418799..212421886,6	K562	blood:
3	chr1:212407788..212409741-chr1:212419930..212421774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11119888	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11119896	1.00[CEU][hapmap];0.91[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119930	0.87[CEU][hapmap]
rs11804839	1.00[ASN][1000 genomes]
rs12060363	0.82[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[CEU][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs12076639	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	0.82[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082507	0.85[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087923	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090051	0.87[EUR][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs17042040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	0.86[EUR][1000 genomes]
rs376547	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	1.00[CEU][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs66522154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947916	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752328	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	0.85[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523303	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416400-212421400	Weak transcription	Psoas Muscle	Psoas
2	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:212418000-212423800	Weak transcription	Stomach Mucosa	stomach
4	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:212419600-212422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:212419800-212421200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:212419800-212421600	Enhancers	Spleen	Spleen
8	chr1:212419800-212425200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:212420600-212421200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:212420600-212421400	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:212420600-212421600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:212420600-212421600	Enhancers	Left Ventricle	heart
13	chr1:212420600-212421600	Enhancers	Right Ventricle	heart
14	chr1:212420600-212421800	Enhancers	Fetal Lung	lung
15	chr1:212420600-212422000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:212420800-212421400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:212420800-212421400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:212420800-212421400	Enhancers	NH-A	brain
19	chr1:212420800-212421400	Enhancers	NHDF-Ad	bronchial
20	chr1:212420800-212421600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:212420800-212421800	Enhancers	Liver	Liver
22	chr1:212420800-212422000	Enhancers	Fetal Intestine Large	intestine
23	chr1:212420800-212422000	Enhancers	Fetal Intestine Small	intestine
24	chr1:212421000-212421200	Enhancers	HUVEC	blood vessel
25	chr1:212421000-212421400	Enhancers	NHLF	lung
26	chr1:212421000-212421400	Enhancers	Osteobl	bone
27	chr1:212421000-212421600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:212421000-212421600	Enhancers	Right Atrium	heart
29	chr1:212421000-212421600	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:212421000-212421600	Enhancers	K562	blood
31	chr1:212421000-212422000	Enhancers	Adipose Nuclei	Adipose
32	chr1:212421000-212422400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:212421000-212423000	Enhancers	HepG2	liver

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