Variant report

Variant	rs12069192
Chromosome Location	chr1:94042847-94042848
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94024687..94026929-chr1:94041608..94043835,2	K562	blood:
2	chr1:94040725..94043300-chr1:94045336..94048805,3	K562	blood:
3	chr1:94034627..94036946-chr1:94040271..94043197,2	K562	blood:
4	chr1:94030537..94032103-chr1:94042791..94044615,2	K562	blood:
5	chr1:94042226..94044912-chr1:94048849..94050610,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12059142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062278	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093585	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094668	1.00[MEX][hapmap]
rs6681200	1.00[MEX][hapmap]
rs6697077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963327	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963341	0.92[AFR][1000 genomes];1.00[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
4	chr1:94024000-94044200	Strong transcription	HSMM	muscle
5	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:94025200-94043000	Strong transcription	Liver	Liver
7	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
9	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
11	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
13	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:94033400-94043200	Strong transcription	Aorta	Aorta
18	chr1:94033400-94044800	Weak transcription	Right Atrium	heart
19	chr1:94033400-94045000	Strong transcription	NHLF	lung
20	chr1:94033400-94045000	Strong transcription	Osteobl	bone
21	chr1:94033600-94044000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:94034000-94043800	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:94034800-94043000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:94035000-94044200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr1:94035200-94044600	Strong transcription	Lung	lung
26	chr1:94035200-94045200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:94036000-94043000	Strong transcription	A549	lung
28	chr1:94036200-94044800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:94038000-94044000	Weak transcription	Esophagus	oesophagus
31	chr1:94038400-94043600	Strong transcription	HUVEC	blood vessel
32	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:94038800-94044000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:94039800-94043400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:94040000-94043400	Strong transcription	Gastric	stomach
40	chr1:94040000-94045600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr1:94040000-94045800	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:94040200-94043000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:94040200-94043000	Strong transcription	Colonic Mucosa	Colon
45	chr1:94040200-94044800	Weak transcription	Right Ventricle	heart
46	chr1:94040400-94043000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:94040400-94046000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:94040400-94046000	Genic enhancers	Placenta	Placenta
49	chr1:94040600-94043000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:94040800-94044000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links