Variant report

Variant	rs12037928
Chromosome Location	chr1:151537266-151537267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151536734-151537275	A549	lung:	n/a	n/a
2	USF2	chr1:151537171-151537312	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151535660..151537996-chr1:151558543..151560169,2	MCF-7	breast:
2	1:151496437-151509688..1:151537045-151537406	Hela-S3	cervix:
3	1:151516085-151535167..1:151537045-151537406	GM12878	blood:
4	chr1:151530516..151532750-chr1:151536310..151538102,2	K562	blood:
5	chr1:151528421..151530199-chr1:151537173..151538889,2	K562	blood:
6	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
7	chr1:151535829..151537452-chr1:151734480..151736018,2	MCF-7	breast:
8	1:151411623-151426875..1:151537045-151537406	GM12878	blood:
9	chr1:151535409..151537724-chr1:151807504..151809415,2	MCF-7	breast:
10	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:

No data

Variant related genes	Relation type
TUFT1	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143367	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11549248	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12029082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12038198	1.00[CEU][hapmap]
rs12044926	1.00[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1418823	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17640579	0.82[JPT][hapmap]
rs17640598	0.81[JPT][hapmap]
rs60322305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6694047	1.00[EUR][1000 genomes];0.82[ASN][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
4	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
9	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:151522200-151537800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:151522200-151537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
13	chr1:151524200-151537600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:151526800-151538600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:151530200-151540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:151531800-151538000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151531800-151542200	Strong transcription	HSMM	muscle
18	chr1:151532000-151537800	Weak transcription	HMEC	breast
19	chr1:151532000-151542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
21	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:151533000-151540000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:151533600-151538600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:151533600-151541600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:151533800-151541400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:151534000-151539600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:151534200-151542000	Strong transcription	Fetal Intestine Large	intestine
30	chr1:151534200-151542200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:151534200-151542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:151534400-151539000	Strong transcription	Brain Germinal Matrix	brain
35	chr1:151534400-151539600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:151534400-151540800	Strong transcription	Fetal Intestine Small	intestine
37	chr1:151534800-151537600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:151534800-151538800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
40	chr1:151535200-151537600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:151535200-151541800	Weak transcription	NHDF-Ad	bronchial
42	chr1:151535600-151537800	Strong transcription	Colonic Mucosa	Colon
43	chr1:151535600-151540000	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:151535800-151538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:151535800-151538400	Genic enhancers	A549	lung
47	chr1:151535800-151539600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:151535800-151540400	Genic enhancers	NHEK	skin
49	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:151536000-151539600	Strong transcription	Hela-S3	cervix

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