Variant report

Variant	rs6996318
Chromosome Location	chr8:87487784-87487785
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87479896-87489254	K562	blood:	n/a	n/a
2	POLR2A	chr8:87487409-87488423	A549	lung:	n/a	n/a
3	POLR2A	chr8:87486487-87489376	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:87480537-87488967	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87485122..87487844-chr8:87492423..87496426,3	K562	blood:
2	chr8:87485410..87488607-chr8:87490685..87493576,3	MCF-7	breast:
3	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
4	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000250569	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10096815	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10481198	0.82[ASN][1000 genomes]
rs28646897	0.86[ASN][1000 genomes]
rs4961192	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6471361	0.91[ASN][1000 genomes]
rs7011479	0.91[ASN][1000 genomes]
rs7839863	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87444400-87488800	Weak transcription	NHLF	lung
4	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
6	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
7	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:87473800-87488200	Weak transcription	Stomach Mucosa	stomach
15	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
17	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
21	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:87480000-87491400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:87480600-87492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:87480800-87489200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
28	chr8:87481800-87488000	Weak transcription	Psoas Muscle	Psoas
29	chr8:87481800-87494200	Weak transcription	Gastric	stomach
30	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
31	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
34	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
35	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
36	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
38	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
39	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:87482200-87494200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
44	chr8:87482400-87488400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:87482400-87489800	Weak transcription	NHDF-Ad	bronchial
46	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:87482600-87488200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:87482600-87488800	Weak transcription	NHEK	skin
49	chr8:87482600-87494200	Weak transcription	K562	blood
50	chr8:87482600-87494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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