Variant report

Variant	rs8053257
Chromosome Location	chr16:75674688-75674689
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	FOXA1	chr16:75674527-75674917	HepG2	liver:	n/a	n/a
2	FOXA2	chr16:75674519-75674807	A549	lung:	n/a	n/a
3	FOXA2	chr16:75674518-75674788	HepG2	liver:	n/a	n/a
4	FOXA2	chr16:75674453-75674879	A549	lung:	n/a	n/a
5	POLR2A	chr16:75674576-75674748	K562	blood:	n/a	n/a
6	CEBPB	chr16:75674582-75674782	HepG2	liver:	n/a	n/a
7	FOXA1	chr16:75674496-75674775	HepG2	liver:	n/a	n/a
8	FOXA1	chr16:75674552-75674783	HepG2	liver:	n/a	n/a
9	CEBPB	chr16:75674538-75674880	IMR90	lung:	n/a	n/a
10	MXI1	chr16:75674288-75675044	IMR90	lung:	n/a	n/a
11	FOXA1	chr16:75674435-75674864	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
KARS	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11149845	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133766	0.82[CEU][hapmap]
rs11556641	1.00[CHD][hapmap]
rs11646086	0.82[CEU][hapmap]
rs11646574	0.82[CEU][hapmap]
rs11866630	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940813	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940961	1.00[CHD][hapmap]
rs16941008	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs16941287	1.00[CHD][hapmap]
rs16941301	1.00[CHD][hapmap]
rs16941516	0.85[CHD][hapmap]
rs16942022	0.82[CEU][hapmap]
rs16942032	1.00[CHD][hapmap]
rs16942256	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942274	0.81[EUR][1000 genomes]
rs16942870	0.85[CEU][hapmap]
rs16943274	0.85[CEU][hapmap]
rs16943285	0.85[CEU][hapmap]
rs16975847	1.00[CHB][hapmap]
rs2233805	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs2242408	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2453141	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2550883	0.82[EUR][1000 genomes]
rs2550884	0.82[EUR][1000 genomes]
rs2550888	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs2550892	0.83[CHD][hapmap]
rs2550893	0.85[CHD][hapmap]
rs2550902	0.85[CHD][hapmap]
rs2650411	0.85[CHD][hapmap]
rs2650413	0.85[CHD][hapmap]
rs2738798	0.87[CEU][hapmap]
rs2738799	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs41505349	0.93[LWK][hapmap];0.82[MKK][hapmap];0.83[AFR][1000 genomes]
rs6834	0.85[CEU][hapmap]
rs7186790	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs7187847	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195089	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs7205042	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73615082	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051771	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs920037	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75658400-75679200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:75658400-75679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75658400-75679800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:75658600-75678200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:75658800-75677000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr16:75658800-75679800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:75659000-75677000	Strong transcription	Brain Substantia Nigra	brain
8	chr16:75659000-75678200	Strong transcription	Fetal Muscle Leg	muscle
9	chr16:75659000-75678400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:75659200-75675600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:75659200-75678000	Strong transcription	HepG2	liver
12	chr16:75659200-75680000	Strong transcription	Fetal Stomach	stomach
13	chr16:75659200-75680000	Strong transcription	A549	lung
14	chr16:75659200-75680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:75659400-75676800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:75659400-75677200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr16:75659400-75678400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:75659400-75678400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:75659400-75679600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:75659400-75680000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:75659600-75675600	Strong transcription	HMEC	breast
22	chr16:75659600-75676800	Strong transcription	Left Ventricle	heart
23	chr16:75659600-75677000	Strong transcription	Brain Hippocampus Middle	brain
24	chr16:75659600-75678200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr16:75659600-75678200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr16:75659600-75678200	Strong transcription	Fetal Intestine Large	intestine
27	chr16:75659600-75678400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:75659600-75678600	Strong transcription	Liver	Liver
29	chr16:75659600-75678800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr16:75659600-75679200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr16:75659600-75679400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:75659600-75679600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:75659600-75679600	Strong transcription	Placenta	Placenta
34	chr16:75659600-75679600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr16:75659600-75679800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:75659600-75679800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:75659800-75675400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:75659800-75676000	Strong transcription	HSMMtube	muscle
39	chr16:75659800-75677400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:75659800-75678600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:75659800-75679400	Strong transcription	HSMM	muscle
42	chr16:75659800-75679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75659800-75679600	Strong transcription	Osteobl	bone
44	chr16:75660000-75676800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:75660000-75676800	Strong transcription	NH-A	brain
46	chr16:75660000-75677200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:75660000-75678200	Strong transcription	Fetal Intestine Small	intestine
48	chr16:75660000-75679000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:75660000-75679600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:75660200-75675800	Strong transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links