Variant report

Variant	rs17503997
Chromosome Location	chr8:118897547-118897548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118895392..118899100-chr8:119122968..119125162,4	MCF-7	breast:
2	chr8:118897210..118898934-chr8:119121979..119124377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17474393	1.00[YRI][hapmap]
rs17474727	1.00[YRI][hapmap]
rs17475176	1.00[AFR][1000 genomes]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17503747	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]
rs17505821	1.00[YRI][hapmap]
rs17505924	1.00[YRI][hapmap]
rs17506086	1.00[YRI][hapmap]
rs17506128	1.00[YRI][hapmap]
rs17506142	1.00[YRI][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
2	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118881400-118904600	Weak transcription	Lung	lung
4	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
5	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
7	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
9	chr8:118892600-118898600	Weak transcription	Small Intestine	intestine
10	chr8:118894200-118898000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:118894200-118901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:118894200-118901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:118894800-118898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:118894800-118900600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:118894800-118904400	Weak transcription	NH-A	brain
20	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:118894800-118905600	Weak transcription	HMEC	breast
22	chr8:118895400-118899200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:118895400-118899400	Enhancers	Liver	Liver
24	chr8:118895600-118900800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:118895800-118897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:118896000-118901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:118896200-118900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
29	chr8:118896400-118897600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:118896400-118898000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:118896400-118901200	Weak transcription	HSMM	muscle
32	chr8:118896600-118898400	Enhancers	A549	lung
33	chr8:118896600-118898600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:118896600-118900800	Weak transcription	Fetal Heart	heart
35	chr8:118896600-118902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:118896600-118903000	Weak transcription	NHEK	skin
37	chr8:118896800-118901200	Weak transcription	Fetal Lung	lung
38	chr8:118896800-118902600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:118896800-118904400	Weak transcription	Pancreas	Pancrea
40	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
41	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:118897000-118897800	Weak transcription	HepG2	liver
43	chr8:118897000-118898000	Weak transcription	Fetal Intestine Large	intestine
44	chr8:118897000-118898000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:118897000-118898800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:118897200-118898000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:118897200-118898400	Weak transcription	Fetal Kidney	kidney
48	chr8:118897200-118898600	Weak transcription	Osteobl	bone
49	chr8:118897200-118900600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:118897200-118900800	Weak transcription	Aorta	Aorta

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