Variant report

Variant	rs11730327
Chromosome Location	chr4:119228883-119228884
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	chr4:119223167..119225412-chr4:119228063..119230153,3	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10002634	0.80[ASN][1000 genomes]
rs10008013	0.80[ASN][1000 genomes]
rs10014055	0.80[ASN][1000 genomes]
rs10014957	0.80[ASN][1000 genomes]
rs10016206	0.80[ASN][1000 genomes]
rs10018844	0.80[ASN][1000 genomes]
rs10024837	0.80[ASN][1000 genomes]
rs10025690	0.80[ASN][1000 genomes]
rs10033927	0.80[ASN][1000 genomes]
rs10213280	0.80[ASN][1000 genomes]
rs1028091	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11721634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723877	0.80[ASN][1000 genomes]
rs11723996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11726746	0.80[ASN][1000 genomes]
rs11726838	0.80[ASN][1000 genomes]
rs11727684	0.80[ASN][1000 genomes]
rs11727817	0.80[ASN][1000 genomes]
rs11728941	0.80[ASN][1000 genomes]
rs11730687	0.80[ASN][1000 genomes]
rs11734145	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11930782	0.80[ASN][1000 genomes]
rs11933280	0.80[ASN][1000 genomes]
rs11934183	0.80[ASN][1000 genomes]
rs11944227	0.80[ASN][1000 genomes]
rs11945329	0.80[ASN][1000 genomes]
rs11945537	0.80[ASN][1000 genomes]
rs11945882	0.80[ASN][1000 genomes]
rs11947244	0.80[ASN][1000 genomes]
rs11947630	0.80[ASN][1000 genomes]
rs13435006	0.80[ASN][1000 genomes]
rs1403845	0.80[ASN][1000 genomes]
rs1403846	0.80[ASN][1000 genomes]
rs1523744	0.80[ASN][1000 genomes]
rs1523745	0.80[ASN][1000 genomes]
rs1523746	0.80[ASN][1000 genomes]
rs17515832	0.80[ASN][1000 genomes]
rs17516430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516450	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17516575	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs17594054	0.80[ASN][1000 genomes]
rs17594243	0.80[ASN][1000 genomes]
rs1996725	0.80[ASN][1000 genomes]
rs2030633	0.80[ASN][1000 genomes]
rs2030634	0.80[ASN][1000 genomes]
rs2204269	0.80[ASN][1000 genomes]
rs2271577	0.80[ASN][1000 genomes]
rs2271578	0.80[ASN][1000 genomes]
rs2272160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28396217	0.80[ASN][1000 genomes]
rs28508556	0.80[ASN][1000 genomes]
rs28661939	1.00[CEU][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805195	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817274	0.80[ASN][1000 genomes]
rs4546315	0.80[ASN][1000 genomes]
rs56007507	0.80[ASN][1000 genomes]
rs56258393	0.80[ASN][1000 genomes]
rs56305917	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339949	0.80[ASN][1000 genomes]
rs56390335	0.86[ASN][1000 genomes]
rs57605165	0.80[ASN][1000 genomes]
rs58798110	0.80[ASN][1000 genomes]
rs61342457	0.80[ASN][1000 genomes]
rs61443542	0.80[ASN][1000 genomes]
rs62326151	0.80[ASN][1000 genomes]
rs6822996	0.80[ASN][1000 genomes]
rs6842372	0.80[ASN][1000 genomes]
rs6842689	0.80[ASN][1000 genomes]
rs6853304	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855052	0.80[ASN][1000 genomes]
rs6856076	0.80[ASN][1000 genomes]
rs71608349	0.80[ASN][1000 genomes]
rs72909175	0.80[ASN][1000 genomes]
rs72909186	0.80[ASN][1000 genomes]
rs72917104	0.80[ASN][1000 genomes]
rs72917146	0.80[ASN][1000 genomes]
rs72917175	0.80[ASN][1000 genomes]
rs72917179	0.80[ASN][1000 genomes]
rs7685455	0.80[ASN][1000 genomes]
rs9996753	0.80[ASN][1000 genomes]
rs9996762	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119213000-119240600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:119216400-119234200	Weak transcription	NHLF	lung
8	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:119216600-119244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:119217400-119243400	Weak transcription	Fetal Lung	lung
11	chr4:119217600-119233400	Weak transcription	NHDF-Ad	bronchial
12	chr4:119220200-119234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:119220200-119240200	Weak transcription	Osteobl	bone
14	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:119226600-119230800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:119227400-119236000	Weak transcription	Pancreas	Pancrea
17	chr4:119227800-119230400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:119227800-119234400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:119228000-119229800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:119228200-119229800	Enhancers	Fetal Heart	heart
21	chr4:119228200-119229800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:119228400-119229600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:119228400-119229800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:119228600-119229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:119228800-119229000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:119228800-119229200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:119228800-119229200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:119228800-119229200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:119228800-119229200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:119228800-119229200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:119228800-119229200	Enhancers	Fetal Brain Female	brain
32	chr4:119228800-119229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:119228800-119229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:119228800-119229600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:119228800-119229800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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