Variant report

Variant	rs2201144
Chromosome Location	chr12:40610863-40610864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40610100-40613194..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10506148	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs10878123	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10878208	0.83[JPT][hapmap]
rs11174928	1.00[ASW][hapmap]
rs11175103	1.00[ASW][hapmap]
rs11175256	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs11175332	0.95[JPT][hapmap]
rs11175371	0.95[JPT][hapmap]
rs11175401	0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11175405	0.89[JPT][hapmap]
rs11175422	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11175540	0.84[ASN][1000 genomes]
rs11175558	0.95[JPT][hapmap]
rs11564115	0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1388593	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1388596	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1472117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491924	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1491939	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1491942	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs17443199	0.89[JPT][hapmap]
rs17461429	0.81[ASN][1000 genomes]
rs17484286	0.81[CHB][hapmap]
rs1817817	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1907630	0.98[ASN][1000 genomes]
rs1907631	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1907634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2046931	0.90[JPT][hapmap]
rs2131088	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2172240	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2172241	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2638244	0.90[JPT][hapmap]
rs2638268	0.90[JPT][hapmap]
rs2638270	0.95[JPT][hapmap]
rs2638271	0.90[JPT][hapmap]
rs2708426	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2708436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708438	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723260	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2723268	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723269	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28365179	0.94[JPT][hapmap]
rs4473003	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs7134572	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs72644819	0.84[ASN][1000 genomes]
rs7310104	0.90[JPT][hapmap]
rs949640	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
6	chr12:40609400-40611000	Enhancers	HMEC	breast
7	chr12:40609600-40611000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:40610000-40611000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:40610000-40611200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:40610200-40611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:40610400-40611200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:40610400-40611200	Enhancers	A549	lung
13	chr12:40610400-40611400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:40610600-40611200	Active TSS	Primary hematopoietic stem cells	blood
15	chr12:40610800-40611200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:40610800-40611200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:40610800-40616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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