Variant report

Variant	rs36005387
Chromosome Location	chr12:119594200-119594201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119593060..119595658-chr12:119595744..119597599,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11064685	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064694	0.81[EUR][1000 genomes]
rs11064695	0.81[EUR][1000 genomes]
rs11064699	0.81[EUR][1000 genomes]
rs12811848	0.81[EUR][1000 genomes]
rs12812680	0.81[EUR][1000 genomes]
rs34109560	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34168259	0.81[EUR][1000 genomes]
rs34658242	0.81[EUR][1000 genomes]
rs34689026	0.81[EUR][1000 genomes]
rs35911573	0.85[EUR][1000 genomes]
rs67681082	0.81[EUR][1000 genomes]
rs68067444	0.81[EUR][1000 genomes]
rs7138273	0.81[EUR][1000 genomes]
rs7303637	0.81[EUR][1000 genomes]
rs7304005	0.81[EUR][1000 genomes]
rs73213443	0.87[EUR][1000 genomes]
rs73213444	0.87[EUR][1000 genomes]
rs7975529	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634173	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119571200-119594600	Weak transcription	Fetal Brain Male	brain
2	chr12:119589800-119594200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:119589800-119595000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:119589800-119598200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:119590000-119595200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:119591200-119594600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:119591800-119594600	Strong transcription	Brain Germinal Matrix	brain
8	chr12:119592000-119594200	Weak transcription	Left Ventricle	heart
9	chr12:119592000-119594400	Weak transcription	Right Ventricle	heart
10	chr12:119592000-119595000	Weak transcription	Lung	lung
11	chr12:119592000-119595200	Weak transcription	Fetal Heart	heart
12	chr12:119592000-119597000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:119592600-119594400	Enhancers	Fetal Muscle Leg	muscle
14	chr12:119592800-119595000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:119593000-119594400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:119593000-119597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:119593200-119597400	Enhancers	HSMMtube	muscle
19	chr12:119593400-119594200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:119593400-119594600	Weak transcription	Right Atrium	heart
21	chr12:119593400-119595000	Weak transcription	Fetal Brain Female	brain
22	chr12:119593400-119595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:119593600-119594200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:119593600-119594200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:119593800-119594200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:119594000-119594200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:119594000-119594200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:119594000-119594200	Enhancers	Placenta	Placenta
29	chr12:119594000-119594200	Enhancers	K562	blood
30	chr12:119594200-119594400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:119594200-119594400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr12:119594200-119594400	Flanking Bivalent TSS/Enh	Placenta	Placenta
33	chr12:119594200-119594400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr12:119594200-119595400	Enhancers	Aorta	Aorta
35	chr12:119594200-119595600	Enhancers	Left Ventricle	heart
36	chr12:119594200-119596600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links