Variant report

Variant	rs6997044
Chromosome Location	chr8:119060265-119060266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11562672	1.00[AMR][1000 genomes]
rs11562700	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562701	1.00[AMR][1000 genomes]
rs11562729	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562732	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562734	1.00[AMR][1000 genomes]
rs11562767	1.00[AMR][1000 genomes]
rs17476463	1.00[AMR][1000 genomes]
rs17505283	1.00[AMR][1000 genomes]
rs6984750	1.00[AMR][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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
3	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
4	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
5	chr8:119050000-119060400	Weak transcription	A549	lung
6	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:119055200-119065400	Weak transcription	HepG2	liver
9	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
11	chr8:119055600-119060600	Weak transcription	NHEK	skin
12	chr8:119055800-119060400	Weak transcription	HMEC	breast
13	chr8:119055800-119061000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
15	chr8:119056200-119061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:119056200-119061400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:119057000-119062800	Enhancers	Fetal Lung	lung
18	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
19	chr8:119057400-119061400	Weak transcription	Fetal Stomach	stomach
20	chr8:119057800-119061800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:119058400-119060600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:119058400-119062200	Enhancers	Ovary	ovary
25	chr8:119058600-119060600	Enhancers	Psoas Muscle	Psoas
26	chr8:119058600-119061800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:119058600-119062000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:119058600-119062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:119058600-119062800	Enhancers	NH-A	brain
30	chr8:119058600-119062800	Enhancers	NHLF	lung
31	chr8:119058800-119060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:119058800-119061200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:119058800-119061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:119058800-119061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:119058800-119061600	Weak transcription	Aorta	Aorta
36	chr8:119058800-119061600	Weak transcription	Gastric	stomach
37	chr8:119058800-119061600	Weak transcription	Left Ventricle	heart
38	chr8:119058800-119061600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:119058800-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:119058800-119065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:119058800-119065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:119059000-119061400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:119059000-119061800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:119059000-119062000	Enhancers	Osteobl	bone
45	chr8:119059200-119060400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:119059200-119060800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:119059200-119062200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:119059400-119060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:119059400-119060600	Weak transcription	Fetal Brain Female	brain
50	chr8:119059400-119062000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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