Variant report

Variant	rs72678626
Chromosome Location	chr1:70752268-70752269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs169172	0.82[EUR][1000 genomes]
rs574587	0.85[EUR][1000 genomes]
rs595662	0.81[EUR][1000 genomes]
rs647872	0.82[EUR][1000 genomes]
rs6680571	1.00[AFR][1000 genomes]
rs6690916	1.00[AMR][1000 genomes]
rs699221	0.87[AMR][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	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
3	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
4	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
5	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
6	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
9	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
12	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:70717600-70755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:70717800-70758000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:70717800-70761200	Weak transcription	NHLF	lung
21	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:70718200-70755800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:70719000-70758800	Weak transcription	HMEC	breast
25	chr1:70719200-70783800	Weak transcription	A549	lung
26	chr1:70723600-70756800	Weak transcription	Lung	lung
27	chr1:70728600-70756200	Weak transcription	NH-A	brain
28	chr1:70728600-70761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:70731400-70756800	Weak transcription	Left Ventricle	heart
30	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
31	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
32	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:70734400-70755800	Weak transcription	Fetal Brain Female	brain
34	chr1:70734400-70756200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:70734400-70756200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:70734400-70756800	Weak transcription	Thymus	Thymus
37	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
38	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:70734800-70755600	Weak transcription	Ovary	ovary
40	chr1:70736200-70762000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:70736600-70755600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:70736800-70755800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:70737400-70756800	Weak transcription	HSMM	muscle
44	chr1:70737800-70755600	Weak transcription	HUVEC	blood vessel
45	chr1:70738000-70756600	Weak transcription	HepG2	liver
46	chr1:70739800-70756200	Weak transcription	Placenta	Placenta
47	chr1:70740400-70754400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:70740600-70755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:70740600-70756600	Weak transcription	Osteobl	bone
50	chr1:70740600-70759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links