Variant report

Variant	rs7934478
Chromosome Location	chr11:86516781-86516782
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86194046..86196274-chr11:86514380..86517149,2	MCF-7	breast:
2	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10501629	1.00[ASN][1000 genomes]
rs11234769	1.00[ASN][1000 genomes]
rs11234776	1.00[ASN][1000 genomes]
rs11234777	1.00[ASN][1000 genomes]
rs11234778	1.00[ASN][1000 genomes]
rs11234785	1.00[ASN][1000 genomes]
rs11234798	1.00[ASN][1000 genomes]
rs11234799	1.00[ASN][1000 genomes]
rs11234800	1.00[ASN][1000 genomes]
rs11234818	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602353	1.00[ASN][1000 genomes]
rs11604205	1.00[ASN][1000 genomes]
rs11605575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11608167	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362740	1.00[ASN][1000 genomes]
rs12791451	1.00[ASN][1000 genomes]
rs12798749	1.00[ASN][1000 genomes]
rs12807796	1.00[ASN][1000 genomes]
rs17159941	1.00[ASN][1000 genomes]
rs17758195	1.00[ASN][1000 genomes]
rs17758206	1.00[ASN][1000 genomes]
rs17758334	1.00[ASN][1000 genomes]
rs17758376	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758400	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820139	1.00[ASN][1000 genomes]
rs1815753	1.00[ASN][1000 genomes]
rs2011913	1.00[ASN][1000 genomes]
rs34963582	1.00[ASN][1000 genomes]
rs35666652	1.00[ASN][1000 genomes]
rs35781069	1.00[ASN][1000 genomes]
rs4307742	1.00[ASN][1000 genomes]
rs57857339	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399373	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66672297	1.00[ASN][1000 genomes]
rs66827623	1.00[ASN][1000 genomes]
rs67313042	1.00[ASN][1000 genomes]
rs67588995	1.00[ASN][1000 genomes]
rs67761566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67939314	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128805	1.00[ASN][1000 genomes]
rs71465659	1.00[ASN][1000 genomes]
rs72967468	1.00[ASN][1000 genomes]
rs72967500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969477	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	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	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86512600-86518600	Weak transcription	Small Intestine	intestine
3	chr11:86512600-86520600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:86512800-86516800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:86512800-86517400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:86512800-86518400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
8	chr11:86513200-86519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:86513400-86517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:86513400-86520400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:86513600-86517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:86513600-86518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86513600-86518600	Weak transcription	Lung	lung
14	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
15	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:86514000-86517200	Enhancers	NHLF	lung
18	chr11:86514000-86518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:86514000-86518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:86514000-86523200	Weak transcription	Psoas Muscle	Psoas
21	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:86514200-86517600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:86514200-86520400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
26	chr11:86514400-86516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:86514400-86517200	Transcr. at gene 5' and 3'	A549	lung
28	chr11:86514600-86521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:86514800-86517400	Enhancers	Osteobl	bone
30	chr11:86514800-86517600	Enhancers	NHDF-Ad	bronchial
31	chr11:86514800-86518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:86514800-86519200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:86515000-86517000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:86515000-86517600	Enhancers	HMEC	breast
35	chr11:86515000-86519600	Weak transcription	Fetal Brain Male	brain
36	chr11:86515000-86520000	Genic enhancers	Hela-S3	cervix
37	chr11:86515200-86517000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:86515200-86519000	Enhancers	Colon Smooth Muscle	Colon
39	chr11:86515400-86517400	Genic enhancers	NH-A	brain
40	chr11:86515400-86517600	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:86515600-86517200	Enhancers	HSMMtube	muscle
42	chr11:86515600-86519200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:86515600-86521600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:86515800-86517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:86515800-86517600	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:86516000-86516800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:86516000-86516800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:86516000-86516800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr11:86516000-86517200	Enhancers	Right Atrium	heart

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