Variant report

Variant	rs6987499
Chromosome Location	chr8:66751702-66751703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66750114..66752616-chr8:66932184..66934106,2	MCF-7	breast:
2	chr8:66739522..66741697-chr8:66751069..66753094,2	K562	blood:

Variant related genes	Relation type
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11995215	0.91[ASN][1000 genomes]
rs12114361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355830	0.82[ASN][1000 genomes]
rs17396080	0.83[ASN][1000 genomes]
rs2357474	0.87[ASN][1000 genomes]
rs56784317	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57261641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57517571	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57688867	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58213885	0.95[ASN][1000 genomes]
rs58760509	0.95[ASN][1000 genomes]
rs59322796	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59342909	0.88[AFR][1000 genomes]
rs59587921	0.88[AFR][1000 genomes]
rs60213300	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61464990	0.95[ASN][1000 genomes]
rs61575731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61736485	0.95[ASN][1000 genomes]
rs6984768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693418	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73693420	0.95[ASN][1000 genomes]
rs7821744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824102	0.88[AFR][1000 genomes]
rs7833724	0.86[AFR][1000 genomes]
rs7836663	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7845030	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
4	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
6	chr8:66738600-66752600	Weak transcription	Pancreas	Pancrea
7	chr8:66740200-66752400	Weak transcription	Fetal Kidney	kidney
8	chr8:66742200-66752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:66744400-66751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:66745200-66753000	Weak transcription	Gastric	stomach
11	chr8:66746200-66752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:66746200-66752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:66747200-66752400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:66748000-66752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:66748000-66752400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:66748000-66752400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:66748000-66752800	Weak transcription	Psoas Muscle	Psoas
18	chr8:66748000-66752800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
20	chr8:66748200-66755800	Active TSS	Thymus	Thymus
21	chr8:66748800-66752400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:66749000-66751800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
23	chr8:66749000-66752400	Enhancers	Brain Angular Gyrus	brain
24	chr8:66749000-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:66749200-66752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:66749200-66752600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:66749200-66752800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:66749400-66751800	Enhancers	Fetal Brain Female	brain
30	chr8:66749400-66752000	Enhancers	Fetal Brain Male	brain
31	chr8:66749400-66752400	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:66749600-66755000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr8:66749800-66755000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:66750000-66751800	Enhancers	Hela-S3	cervix
36	chr8:66750000-66752000	Enhancers	Brain Germinal Matrix	brain
37	chr8:66750000-66752600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:66750000-66753400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:66750200-66751800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:66750200-66754400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:66750400-66752000	Enhancers	HepG2	liver
42	chr8:66750400-66752600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr8:66750400-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:66750600-66752200	Flanking Active TSS	NHEK	skin
45	chr8:66750600-66752400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:66750800-66751800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:66750800-66752200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:66750800-66752200	Enhancers	Brain Hippocampus Middle	brain
49	chr8:66750800-66755000	Active TSS	GM12878-XiMat	blood
50	chr8:66751000-66751800	Enhancers	A549	lung

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