Variant report

Variant	rs4801676
Chromosome Location	chr19:56626448-56626449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56626082..56627946-chr19:56663897..56666676,2	K562	blood:
2	chr19:56625585..56628513-chr19:56655679..56658923,3	K562	blood:
3	chr19:56622071..56628058-chr19:56628441..56634693,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142409	Chromatin interaction
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1007851	0.82[ASN][1000 genomes]
rs11673628	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12981138	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983086	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450439	0.82[ASN][1000 genomes]
rs2631625	0.82[ASN][1000 genomes]
rs2631627	0.83[ASN][1000 genomes]
rs2631628	0.83[ASN][1000 genomes]
rs2631631	0.84[ASN][1000 genomes]
rs2631637	0.87[ASN][1000 genomes]
rs2631640	0.84[ASN][1000 genomes]
rs2637092	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2637094	0.83[ASN][1000 genomes]
rs2637097	0.85[ASN][1000 genomes]
rs2637114	0.81[ASN][1000 genomes]
rs2932757	0.85[ASN][1000 genomes]
rs35766803	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs473953	0.84[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs478402	0.87[ASN][1000 genomes]
rs4801294	0.85[ASN][1000 genomes]
rs490345	0.83[ASN][1000 genomes]
rs497453	0.82[ASN][1000 genomes]
rs499083	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs504350	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs506547	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs506986	0.80[CEU][hapmap];0.90[TSI][hapmap]
rs524778	0.86[ASN][1000 genomes]
rs524829	0.86[ASN][1000 genomes]
rs524988	0.83[ASN][1000 genomes]
rs525827	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs527715	0.86[ASN][1000 genomes]
rs540900	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs546082	0.80[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs547945	0.81[JPT][hapmap]
rs562907	0.87[GIH][hapmap];0.91[TSI][hapmap]
rs564973	0.81[ASN][1000 genomes]
rs569310	0.80[ASN][1000 genomes]
rs572851	0.83[ASN][1000 genomes]
rs578990	0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs578991	0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs583330	0.86[ASN][1000 genomes]
rs588574	0.82[JPT][hapmap]
rs592827	0.87[ASN][1000 genomes]
rs599405	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs609736	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs619934	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs626821	0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs629544	0.84[ASN][1000 genomes]
rs640654	0.86[ASN][1000 genomes]
rs643133	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs643174	0.84[ASN][1000 genomes]
rs6509982	0.82[ASN][1000 genomes]
rs659424	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs662308	0.83[ASN][1000 genomes]
rs662763	0.81[ASN][1000 genomes]
rs665082	0.83[ASN][1000 genomes]
rs665857	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs667438	0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs667974	0.86[ASN][1000 genomes]
rs669866	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs672824	0.80[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs677127	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs678540	0.83[ASN][1000 genomes]
rs684653	0.84[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs685117	0.89[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs7250351	0.80[ASN][1000 genomes]
rs8103672	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103698	0.87[ASW][hapmap];0.81[MKK][hapmap]
rs9676765	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
15	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1811581	chr19:56609313-56631618	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4801676	ZNF787	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:56616000-56626600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:56616000-56627000	Enhancers	Liver	Liver
4	chr19:56616000-56627200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:56617200-56629200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:56618600-56630000	Weak transcription	Dnd41	blood
7	chr19:56619200-56627200	Enhancers	Left Ventricle	heart
8	chr19:56619600-56627200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:56620000-56627000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:56620400-56631000	Enhancers	Pancreas	Pancrea
11	chr19:56620800-56627200	Enhancers	Right Atrium	heart
12	chr19:56620800-56630400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr19:56620800-56631000	Weak transcription	Aorta	Aorta
14	chr19:56621000-56630000	Weak transcription	NHDF-Ad	bronchial
15	chr19:56621600-56626600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56621600-56626600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:56621600-56626800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr19:56621800-56626600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr19:56622000-56626800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:56622000-56627200	Enhancers	Psoas Muscle	Psoas
21	chr19:56622000-56627600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr19:56622000-56628200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:56622200-56626600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr19:56622400-56626600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:56622600-56630400	Weak transcription	Osteobl	bone
26	chr19:56622800-56630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:56622800-56630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:56623000-56626600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:56623000-56627200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:56623000-56628800	Genic enhancers	Lung	lung
31	chr19:56623000-56631400	Genic enhancers	Spleen	Spleen
32	chr19:56623400-56628600	Enhancers	Brain Anterior Caudate	brain
33	chr19:56623600-56626600	Enhancers	Colonic Mucosa	Colon
34	chr19:56623600-56629200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:56623600-56629600	Weak transcription	NHLF	lung
36	chr19:56623600-56630000	Genic enhancers	HepG2	liver
37	chr19:56623600-56630200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:56623600-56630400	Weak transcription	HMEC	breast
39	chr19:56623600-56630600	Weak transcription	HSMMtube	muscle
40	chr19:56623800-56627200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:56623800-56627800	Enhancers	Primary hematopoietic stem cells	blood
42	chr19:56623800-56629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:56624000-56626600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr19:56624000-56627000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:56624000-56627200	Enhancers	Adipose Nuclei	Adipose
46	chr19:56624200-56627400	Enhancers	Primary B cells from cord blood	blood
47	chr19:56624200-56631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr19:56624400-56626600	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:56624600-56631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:56624800-56626600	Enhancers	Ovary	ovary

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