Variant report

Variant	rs6691736
Chromosome Location	chr1:151535892-151535893
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr1:151535806-151536208	A549	lung:	n/a	n/a
2	FOXA1	chr1:151535802-151536127	T-47D	breast:	n/a	n/a
3	CEBPB	chr1:151535758-151536340	MCF-7	breast:	n/a	n/a
4	FOXA1	chr1:151535853-151536193	A549	lung:	n/a	n/a
5	SIN3AK20	chr1:151534998-151536463	MCF-7	breast:	n/a	n/a
6	NR2F2	chr1:151535736-151536350	MCF-7	breast:	n/a	n/a
7	FOXA1	chr1:151535847-151536296	T-47D	breast:	n/a	n/a
8	CEBPB	chr1:151535797-151536321	MCF-7	breast:	n/a	n/a
9	GATA3	chr1:151535834-151536248	T-47D	breast:	n/a	n/a
10	POLR2A	chr1:151535825-151536145	HepG2	liver:	n/a	n/a
11	FOXA1	chr1:151535810-151536181	A549	lung:	n/a	n/a
12	GATA3	chr1:151535733-151536371	MCF-7	breast:	n/a	n/a
13	NR3C1	chr1:151535728-151536194	A549	lung:	n/a	n/a
14	FOXA2	chr1:151535886-151536194	A549	lung:	n/a	n/a
15	GATA3	chr1:151535797-151536198	T-47D	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151368336-151375897..1:151535167-151537045	Hela-S3	cervix:
2	chr1:151535660..151537996-chr1:151558543..151560169,2	MCF-7	breast:
3	1:151411623-151426875..1:151535167-151537045	GM12878	blood:
4	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
5	1:151333184-151350267..1:151535167-151537045	Hela-S3	cervix:
6	chr1:151535829..151537452-chr1:151734480..151736018,2	MCF-7	breast:
7	1:151512437-151516085..1:151535167-151537045	K562	blood:
8	chr1:151535409..151537724-chr1:151807504..151809415,2	MCF-7	breast:
9	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:

No data

Variant related genes	Relation type
TUFT1	TF binding region
ENSG00000143450	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11204848	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12217027	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12746522	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12746531	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2185838	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3790507	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4132646	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970961	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970962	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587597	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673116	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9645404	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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:88 , 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	chr1:151520200-151536600	Weak transcription	Ovary	ovary
4	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
6	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:151520600-151536800	Weak transcription	Lung	lung
8	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
9	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
14	chr1:151522000-151536600	Weak transcription	Esophagus	oesophagus
15	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:151522200-151536200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:151522200-151537800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:151522200-151537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
20	chr1:151522600-151536000	Weak transcription	Hela-S3	cervix
21	chr1:151522600-151536400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:151522800-151536400	Weak transcription	HepG2	liver
23	chr1:151524200-151537600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:151525000-151536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:151526400-151536400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:151526400-151536600	Weak transcription	NHLF	lung
27	chr1:151526600-151536800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:151526800-151536600	Weak transcription	NH-A	brain
29	chr1:151526800-151536600	Weak transcription	Osteobl	bone
30	chr1:151526800-151538600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:151528200-151536800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:151529400-151536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:151529400-151536600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:151530200-151540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:151531600-151536800	Weak transcription	Fetal Brain Female	brain
36	chr1:151531800-151536600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:151531800-151536800	Weak transcription	Liver	Liver
38	chr1:151531800-151538000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:151531800-151542200	Strong transcription	HSMM	muscle
40	chr1:151532000-151537800	Weak transcription	HMEC	breast
41	chr1:151532000-151542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
43	chr1:151532400-151536400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:151533000-151540000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:151533200-151536600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:151533400-151536400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:151533600-151538600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:151533600-151541600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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