Variant report

Variant	rs1481431
Chromosome Location	chr8:95253685-95253686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95244367..95248911-chr8:95252094..95255731,6	MCF-7	breast:
2	chr8:95252911..95255194-chr8:95273270..95275304,2	MCF-7	breast:
3	chr8:95252636..95255137-chr8:95271154..95272846,2	MCF-7	breast:
4	chr8:95252312..95253964-chr8:95260272..95262421,3	MCF-7	breast:
5	chr8:95253573..95256395-chr8:95272971..95276826,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10216999	0.82[CEU][hapmap]
rs16916621	0.80[EUR][1000 genomes]
rs17734778	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17796027	0.96[EUR][1000 genomes]
rs1973221	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268123	0.80[EUR][1000 genomes]
rs73268124	0.80[EUR][1000 genomes]
rs73268136	0.80[EUR][1000 genomes]
rs73268139	0.94[EUR][1000 genomes]
rs73268141	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:95246800-95254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:95247000-95254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:95247200-95262400	Weak transcription	Gastric	stomach
4	chr8:95247800-95256800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:95248200-95262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:95250400-95259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:95251400-95254000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95252000-95255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:95252200-95254400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:95252200-95254800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95252200-95254800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:95252200-95254800	Enhancers	Colon Smooth Muscle	Colon
14	chr8:95252200-95255200	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:95252200-95255400	Enhancers	Fetal Intestine Small	intestine
16	chr8:95252400-95254000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:95252400-95254200	Enhancers	NHLF	lung
18	chr8:95252400-95254600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:95252400-95255200	Enhancers	Stomach Mucosa	stomach
20	chr8:95252400-95255400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:95252600-95254400	Enhancers	Small Intestine	intestine
22	chr8:95252600-95254400	Enhancers	Stomach Smooth Muscle	stomach
23	chr8:95252600-95255200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:95252800-95254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:95252800-95254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:95252800-95261000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:95252800-95262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:95252800-95262400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:95252800-95262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:95253000-95254000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:95253000-95254200	Enhancers	NHDF-Ad	bronchial
33	chr8:95253000-95255200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:95253000-95255200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:95253000-95255400	Enhancers	Fetal Intestine Large	intestine
36	chr8:95253000-95255400	Enhancers	HUVEC	blood vessel
37	chr8:95253200-95253800	Enhancers	NH-A	brain
38	chr8:95253200-95254000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:95253200-95254000	Enhancers	Hela-S3	cervix
40	chr8:95253200-95254400	Flanking Active TSS	A549	lung
41	chr8:95253200-95254600	Enhancers	Fetal Brain Male	brain
42	chr8:95253200-95255400	Enhancers	HMEC	breast
43	chr8:95253200-95255400	Enhancers	Osteobl	bone
44	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:95253400-95254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:95253400-95254000	Enhancers	Fetal Brain Female	brain
47	chr8:95253400-95254200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:95253400-95254200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:95253400-95254600	Enhancers	Fetal Lung	lung
50	chr8:95253400-95254800	Enhancers	Rectal Smooth Muscle	rectum

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