Variant report

Variant	rs10849632
Chromosome Location	chr12:119614957-119614958
allele	A/G
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	GATA3	chr12:119614763-119615077	T-47D	breast:	n/a	n/a
2	NRF1	chr12:119614875-119614999	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr12:119613829-119615173	IMR90	lung:	n/a	n/a
4	RCOR1	chr12:119613746-119614993	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000256884	TF binding region
HSPB8	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11038	0.85[ASN][1000 genomes]
rs11064698	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490242	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490244	0.89[ASN][1000 genomes]
rs7303610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969603	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972652	0.95[EUR][1000 genomes];0.90[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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119609000-119616000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:119609800-119615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:119611400-119616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:119612200-119615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:119613600-119615000	Flanking Active TSS	Placenta	Placenta
6	chr12:119613600-119615000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:119613600-119615200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:119613800-119616600	Enhancers	Fetal Heart	heart
9	chr12:119614200-119615200	Enhancers	Right Ventricle	heart
10	chr12:119614200-119615800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:119614200-119615800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:119614200-119616200	Weak transcription	Fetal Lung	lung
13	chr12:119614200-119616600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:119614200-119616600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:119614400-119615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:119614400-119615000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:119614400-119615000	Enhancers	Stomach Mucosa	stomach
18	chr12:119614400-119615000	Enhancers	HUVEC	blood vessel
19	chr12:119614400-119615200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:119614400-119616000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:119614400-119616200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:119614400-119616200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:119614400-119616200	Weak transcription	Spleen	Spleen
24	chr12:119614400-119616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:119614400-119616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:119614400-119616800	Enhancers	NHDF-Ad	bronchial
27	chr12:119614600-119615000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:119614600-119615000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:119614600-119615000	Enhancers	Adipose Nuclei	Adipose
30	chr12:119614600-119615000	Enhancers	Aorta	Aorta
31	chr12:119614600-119615000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:119614600-119615000	Enhancers	Left Ventricle	heart
33	chr12:119614600-119615000	Enhancers	Psoas Muscle	Psoas
34	chr12:119614600-119615000	Enhancers	Rectal Smooth Muscle	rectum
35	chr12:119614600-119615000	Enhancers	HSMMtube	muscle
36	chr12:119614600-119615200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:119614600-119615200	Enhancers	Colon Smooth Muscle	Colon
38	chr12:119614600-119615200	Enhancers	HSMM	muscle
39	chr12:119614600-119615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:119614600-119615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:119614600-119615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:119614600-119616000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:119614600-119616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:119614600-119616000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:119614600-119616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:119614600-119616200	Enhancers	Hela-S3	cervix
47	chr12:119614600-119616200	Weak transcription	NHEK	skin
48	chr12:119614600-119616400	Weak transcription	Esophagus	oesophagus
49	chr12:119614600-119616400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:119614600-119616400	Weak transcription	Right Atrium	heart

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