Variant report

Variant	rs8101804
Chromosome Location	chr19:18496107-18496108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:18496101-18496664	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr19:18496099-18498685	K562	blood:	n/a	chr19:18498525-18498534 chr19:18497901-18497912
3	POLR2A	chr19:18495086-18501822	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18495056-18501851	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:18495619-18498601	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:18492587-18501908	HepG2	liver:	n/a	n/a
7	MBD4	chr19:18496061-18497391	HepG2	liver:	n/a	n/a
8	HEY1	chr19:18492693-18501831	HepG2	liver:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
2	chr19:18493661..18496655-chr19:45595897..45597590,2	MCF-7	breast:
3	chr19:18207159..18210021-chr19:18495217..18497699,3	K562	blood:
4	chr19:18466669..18468716-chr19:18495556..18498014,2	MCF-7	breast:
5	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
6	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
7	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
8	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
9	chr19:18334018..18336391-chr19:18495614..18498582,2	K562	blood:
10	chr19:18495115..18497091-chr19:18555323..18558164,2	MCF-7	breast:
11	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
12	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
13	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
14	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
15	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
16	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
17	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
18	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:

No data

Variant related genes	Relation type
MIR3189	TF binding region
GDF15	TF binding region
ENSG00000175489	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1055150	0.95[ASN][1000 genomes]
rs1059519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459566	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059039	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3787023	0.98[ASN][1000 genomes]
rs3848646	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848647	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3848648	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3848649	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4328570	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808128	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808789	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4808792	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808794	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55947999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56033872	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6512262	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6512263	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6512264	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6512265	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6512266	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7251610	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107264	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18486400-18496600	Weak transcription	Fetal Kidney	kidney
4	chr19:18488600-18496800	Enhancers	Placenta	Placenta
5	chr19:18490000-18496200	Weak transcription	Gastric	stomach
6	chr19:18491400-18496200	Weak transcription	GM12878-XiMat	blood
7	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:18491600-18496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:18491600-18496400	Weak transcription	NHLF	lung
10	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:18491800-18496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:18491800-18496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:18491800-18496400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:18491800-18496400	Weak transcription	NHDF-Ad	bronchial
15	chr19:18491800-18496600	Weak transcription	Osteobl	bone
16	chr19:18491800-18496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:18491800-18496800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:18491800-18496800	Weak transcription	Colonic Mucosa	Colon
19	chr19:18491800-18496800	Weak transcription	Right Atrium	heart
20	chr19:18491800-18497000	Weak transcription	Lung	lung
21	chr19:18492000-18496200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
23	chr19:18493600-18496400	Enhancers	K562	blood
24	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:18494000-18496200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18494000-18496400	Weak transcription	NH-A	brain
27	chr19:18494200-18496200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:18494200-18496200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:18494200-18496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:18494200-18496200	Weak transcription	Spleen	Spleen
31	chr19:18494200-18496400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:18494200-18496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:18494200-18496600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:18494200-18496600	Weak transcription	HSMM	muscle
35	chr19:18494800-18496200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:18494800-18496200	Weak transcription	A549	lung
37	chr19:18495000-18496800	Enhancers	Fetal Intestine Small	intestine
38	chr19:18495200-18496600	Flanking Active TSS	HepG2	liver
39	chr19:18495200-18496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:18495200-18497000	Enhancers	Fetal Intestine Large	intestine
41	chr19:18495400-18496200	Enhancers	Hela-S3	cervix
42	chr19:18495400-18496400	Enhancers	Duodenum Mucosa	Duodenum
43	chr19:18495400-18496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr19:18495600-18496400	Enhancers	NHEK	skin
45	chr19:18495600-18497000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18495600-18497200	Enhancers	Stomach Mucosa	stomach
47	chr19:18495800-18496400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18495800-18496800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:18495800-18497000	Enhancers	Liver	Liver
50	chr19:18495800-18497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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