Variant report

Variant	rs2433438
Chromosome Location	chr11:86454746-86454747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86410588..86412313-chr11:86452715..86455271,2	K562	blood:
2	chr11:86452587..86455678-chr11:86498398..86501247,3	MCF-7	breast:
3	chr11:86429172..86438482-chr11:86450202..86456550,9	MCF-7	breast:
4	chr11:86453943..86454903-chr8:120844804..120845426,2	Hela-S3	cervix:
5	chr11:86382693..86386959-chr11:86452814..86456123,3	MCF-7	breast:
6	chr11:86453173..86455061-chr11:86477105..86479906,2	MCF-7	breast:
7	chr11:86452259..86454963-chr11:86491551..86494314,2	MCF-7	breast:
8	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
9	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:
10	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000064313	Chromatin interaction
ENSG00000255250	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1075702	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10898534	0.83[ASN][1000 genomes]
rs11234783	0.96[ASN][1000 genomes]
rs11234795	0.81[ASN][1000 genomes]
rs11601553	0.86[JPT][hapmap]
rs12576018	0.85[ASN][1000 genomes]
rs12802848	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17211926	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17819068	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2005192	0.82[CHB][hapmap]
rs2433406	0.86[CHB][hapmap]
rs2433407	0.91[CHB][hapmap]
rs2433408	0.86[CHB][hapmap]
rs2433409	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs2433424	0.82[ASN][1000 genomes]
rs2433425	0.83[ASN][1000 genomes]
rs2433426	0.82[ASN][1000 genomes]
rs2433427	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2433428	0.84[ASN][1000 genomes]
rs2433429	0.91[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs2433431	0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs2433432	0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[ASN][1000 genomes]
rs2433433	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2433434	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2433435	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[ASN][1000 genomes]
rs2433436	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433439	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2433440	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512996	0.91[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs2512997	0.91[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs2512999	0.84[ASN][1000 genomes]
rs2513000	0.86[ASN][1000 genomes]
rs2513001	0.83[ASN][1000 genomes]
rs2513003	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs2513004	0.86[ASN][1000 genomes]
rs2513005	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513010	0.80[ASN][1000 genomes]
rs2513018	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2513019	0.92[ASN][1000 genomes]
rs3096715	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3096716	0.87[ASW][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096717	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3096718	0.87[ASN][1000 genomes]
rs4128368	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4245426	0.98[ASN][1000 genomes]
rs4269941	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4307743	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4570601	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4586194	0.83[ASN][1000 genomes]
rs4943957	0.96[ASN][1000 genomes]
rs4944629	0.93[ASN][1000 genomes]
rs4944630	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs61690902	0.80[ASN][1000 genomes]
rs6592315	0.81[JPT][hapmap]
rs7108176	0.80[ASN][1000 genomes]
rs7124794	0.82[ASN][1000 genomes]
rs7126492	0.86[JPT][hapmap]
rs7926713	0.80[ASN][1000 genomes]
rs7926946	0.81[ASN][1000 genomes]
rs7927257	0.81[ASN][1000 genomes]
rs7927479	0.80[ASN][1000 genomes]
rs7948063	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7951582	0.82[CHB][hapmap];0.86[JPT][hapmap]

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	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	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
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86446000-86458000	Enhancers	HMEC	breast
2	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach
7	chr11:86449000-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:86449200-86455000	Enhancers	HepG2	liver
9	chr11:86449600-86455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:86449800-86455000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:86449800-86455200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:86450200-86455200	Enhancers	Stomach Smooth Muscle	stomach
13	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:86450400-86455000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:86450600-86454800	Enhancers	Right Atrium	heart
16	chr11:86450600-86455200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:86450800-86455000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:86450800-86455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:86451000-86454800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:86451000-86455200	Enhancers	Placenta	Placenta
21	chr11:86452200-86455000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86452200-86458000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:86452400-86457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:86452600-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:86452800-86455200	Enhancers	NHLF	lung
26	chr11:86453000-86455000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:86453000-86457600	Weak transcription	Fetal Heart	heart
28	chr11:86453200-86455000	Flanking Active TSS	A549	lung
29	chr11:86453400-86454800	Enhancers	Adipose Nuclei	Adipose
30	chr11:86453400-86455200	Flanking Active TSS	Hela-S3	cervix
31	chr11:86453400-86455400	Enhancers	HSMM	muscle
32	chr11:86453400-86455400	Enhancers	NHEK	skin
33	chr11:86453400-86459200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:86453400-86459600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:86453600-86454800	Weak transcription	Brain Angular Gyrus	brain
36	chr11:86453800-86454800	Weak transcription	Right Ventricle	heart
37	chr11:86453800-86459200	Weak transcription	Ovary	ovary
38	chr11:86454000-86454800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:86454000-86455000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:86454000-86474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:86454200-86454800	Enhancers	Small Intestine	intestine
42	chr11:86454200-86455000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86454200-86455000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:86454200-86455000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:86454200-86455000	Flanking Active TSS	Osteobl	bone
46	chr11:86454400-86454800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:86454400-86454800	Weak transcription	Fetal Lung	lung
48	chr11:86454400-86455000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:86454400-86455200	Enhancers	Fetal Stomach	stomach
50	chr11:86454400-86455200	Flanking Active TSS	K562	blood

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