Variant report

Variant	rs73693420
Chromosome Location	chr8:66706030-66706031
allele	C/T
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	GATA1	chr8:66705850-66707000	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66705648..66708433-chr8:66714425..66716419,2	K562	blood:
2	chr8:66700732..66705237-chr8:66705292..66709207,8	K562	blood:
3	chr8:66704507..66706983-chr8:66710489..66713459,3	K562	blood:

Variant related genes	Relation type
PDE7A	TF binding region
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11995215	0.87[ASN][1000 genomes]
rs12114361	0.95[ASN][1000 genomes]
rs1355830	0.86[ASN][1000 genomes]
rs17396080	0.87[ASN][1000 genomes]
rs2357474	0.91[ASN][1000 genomes]
rs56784317	0.87[ASN][1000 genomes]
rs57261641	0.91[ASN][1000 genomes]
rs57517571	1.00[ASN][1000 genomes]
rs57688867	0.87[ASN][1000 genomes]
rs58213885	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58760509	1.00[ASN][1000 genomes]
rs59322796	1.00[ASN][1000 genomes]
rs60213300	1.00[ASN][1000 genomes]
rs61464990	1.00[ASN][1000 genomes]
rs61575731	0.95[ASN][1000 genomes]
rs61736485	1.00[ASN][1000 genomes]
rs6984768	0.95[ASN][1000 genomes]
rs6987499	0.95[ASN][1000 genomes]
rs7005571	0.95[ASN][1000 genomes]
rs73693418	1.00[ASN][1000 genomes]
rs7821744	0.95[ASN][1000 genomes]
rs7836663	0.87[ASN][1000 genomes]
rs7845030	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66688200-66706200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:66689200-66707200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:66693000-66708600	Weak transcription	NHDF-Ad	bronchial
4	chr8:66693600-66707400	Weak transcription	Placenta	Placenta
5	chr8:66693800-66707400	Weak transcription	Aorta	Aorta
6	chr8:66695600-66707800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:66697000-66706800	Weak transcription	Dnd41	blood
8	chr8:66698600-66706800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:66700000-66707000	Weak transcription	HMEC	breast
10	chr8:66700200-66706800	Weak transcription	NHEK	skin
11	chr8:66701000-66706800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:66701000-66707000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:66701000-66708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:66701000-66708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:66701400-66707000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:66701400-66708000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:66701600-66706400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:66701600-66707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:66701600-66717000	Weak transcription	Gastric	stomach
20	chr8:66702200-66707000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:66702400-66706400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:66702400-66707200	Enhancers	Primary B cells from cord blood	blood
23	chr8:66702600-66706200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:66702600-66706400	Weak transcription	Thymus	Thymus
25	chr8:66702600-66706800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:66702600-66706800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:66702600-66707400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:66702600-66707400	Weak transcription	Fetal Thymus	thymus
29	chr8:66703200-66706800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:66703200-66711800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:66703400-66706800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:66703400-66707600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:66703600-66706400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:66703800-66707600	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:66703800-66711200	Weak transcription	Small Intestine	intestine
36	chr8:66703800-66711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:66704000-66706400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:66704000-66706400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:66704000-66706800	Weak transcription	Psoas Muscle	Psoas
40	chr8:66704000-66707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:66704000-66707400	Weak transcription	Left Ventricle	heart
42	chr8:66704600-66707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:66704600-66707600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:66704800-66706400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:66704800-66707400	Weak transcription	Pancreas	Pancrea
46	chr8:66705000-66706800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:66705000-66707400	Weak transcription	Right Atrium	heart
48	chr8:66705200-66706200	Enhancers	K562	blood
49	chr8:66705200-66707000	Weak transcription	Stomach Mucosa	stomach
50	chr8:66705400-66706400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links