Variant report

Variant	rs4592448
Chromosome Location	chr11:86307016-86307017
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10792865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234731	0.86[CHB][hapmap]
rs12274942	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12282010	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12288119	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs17757676	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1938921	0.86[CHB][hapmap]
rs1938929	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1938932	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1938935	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2508305	1.00[CEU][hapmap];0.84[GIH][hapmap]
rs2513017	0.88[CEU][hapmap]
rs4144866	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4245418	0.85[CHB][hapmap]
rs4245419	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4245420	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4245421	0.86[CHB][hapmap]
rs4245422	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4245423	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4245424	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs4291697	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4319536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs493010	0.90[CHB][hapmap]
rs4944603	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4944607	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4944611	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs538058	0.95[CHB][hapmap]
rs546427	0.85[CEU][hapmap]
rs567615	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs591060	0.90[CHB][hapmap]
rs609885	0.90[CHB][hapmap]
rs624183	0.90[CHB][hapmap]
rs637693	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6592301	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6592302	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs661954	0.95[CHB][hapmap]
rs679220	0.95[CHB][hapmap]
rs7105863	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7106865	0.86[JPT][hapmap]
rs7115834	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7120444	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs7925862	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7940654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941446	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7951868	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs999472	0.86[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3463753	chr11:86302304-86308102	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv819492	chr11:86304212-86307059	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv555694	chr11:86304732-86307016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv555703	chr11:86305676-86307016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv898057	chr11:86306401-86335459	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
4	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
5	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
7	chr11:86303600-86307200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:86304200-86308000	Weak transcription	Aorta	Aorta
9	chr11:86304200-86308000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:86304200-86308200	Weak transcription	Fetal Stomach	stomach
11	chr11:86304400-86307800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:86304400-86307800	Weak transcription	Ovary	ovary
13	chr11:86304400-86308000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:86304400-86308000	Weak transcription	Right Ventricle	heart
15	chr11:86304400-86308200	Weak transcription	Fetal Lung	lung
16	chr11:86304400-86308400	Weak transcription	Brain Anterior Caudate	brain
17	chr11:86304400-86309000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:86304600-86307600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:86304600-86307800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:86304600-86307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:86304600-86308000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:86304600-86308000	Weak transcription	Fetal Heart	heart
23	chr11:86304600-86308000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:86304600-86308000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:86304600-86308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:86304600-86308200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:86304600-86308200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:86304800-86308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:86306400-86307400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:86306600-86307200	Enhancers	Right Atrium	heart
31	chr11:86306600-86307200	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:86306600-86307400	Enhancers	Fetal Intestine Small	intestine
33	chr11:86306600-86307400	Enhancers	A549	lung
34	chr11:86306600-86307600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:86306600-86308200	Enhancers	Fetal Intestine Large	intestine
36	chr11:86306600-86308200	Weak transcription	NHLF	lung
37	chr11:86306600-86308600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:86306800-86308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:86306800-86308200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:86306800-86308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:86306800-86308200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:86306800-86308800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:86306800-86309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:86307000-86308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:86307000-86308000	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:86307000-86308000	Weak transcription	Left Ventricle	heart
47	chr11:86307000-86308000	Weak transcription	Lung	lung
48	chr11:86307000-86308000	Weak transcription	Pancreas	Pancrea
49	chr11:86307000-86308000	Weak transcription	Psoas Muscle	Psoas
50	chr11:86307000-86308000	Weak transcription	Spleen	Spleen

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