Variant report

Variant	rs606882
Chromosome Location	chr19:56621185-56621186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56574744..56577085-chr19:56619874..56622339,2	K562	blood:
2	chr19:56599644..56602994-chr19:56620278..56624249,5	K562	blood:
3	chr19:56617470..56621508-chr19:56630958..56634094,7	MCF-7	breast:
4	chr19:56617972..56620643-chr19:56620884..56623590,3	MCF-7	breast:
5	chr19:56619067..56621819-chr19:56683473..56686134,2	K562	blood:

Variant related genes	Relation type
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62122452	0.81[ASN][1000 genomes]
rs6509983	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv912515	chr19:56598829-56623710	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:56616000-56626600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:56616000-56627000	Enhancers	Liver	Liver
5	chr19:56616000-56627200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr19:56617200-56622000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:56617200-56622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:56617200-56624400	Weak transcription	Hela-S3	cervix
9	chr19:56617200-56629200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:56617400-56622400	Weak transcription	Fetal Brain Male	brain
11	chr19:56617400-56623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:56618200-56624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:56618400-56622400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:56618400-56622400	Enhancers	Primary B cells from cord blood	blood
15	chr19:56618600-56621200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr19:56618600-56622000	Weak transcription	A549	lung
17	chr19:56618600-56622000	Weak transcription	K562	blood
18	chr19:56618600-56630000	Weak transcription	Dnd41	blood
19	chr19:56618800-56621800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:56618800-56622800	Enhancers	Primary B cells from peripheral blood	blood
21	chr19:56618800-56622800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:56618800-56626400	Enhancers	Fetal Thymus	thymus
23	chr19:56619000-56621800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56619200-56622200	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:56619200-56624200	Enhancers	Placenta	Placenta
26	chr19:56619200-56627200	Enhancers	Left Ventricle	heart
27	chr19:56619400-56621200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:56619400-56621800	Enhancers	HepG2	liver
29	chr19:56619400-56623200	Enhancers	Ovary	ovary
30	chr19:56619600-56621200	Enhancers	Brain Substantia Nigra	brain
31	chr19:56619600-56625000	Enhancers	Fetal Heart	heart
32	chr19:56619600-56627200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:56619800-56621200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr19:56619800-56621200	Enhancers	Brain Cingulate Gyrus	brain
35	chr19:56619800-56621200	Enhancers	HSMM	muscle
36	chr19:56619800-56621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:56619800-56623000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:56619800-56623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:56619800-56624800	Enhancers	Fetal Intestine Large	intestine
40	chr19:56619800-56625400	Enhancers	Fetal Lung	lung
41	chr19:56620000-56621200	Enhancers	HSMMtube	muscle
42	chr19:56620000-56621200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr19:56620000-56622000	Enhancers	GM12878-XiMat	blood
44	chr19:56620000-56622800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr19:56620000-56627000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr19:56620200-56622000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:56620200-56622600	Enhancers	Primary hematopoietic stem cells	blood
48	chr19:56620200-56623000	Enhancers	Spleen	Spleen
49	chr19:56620200-56623400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:56620200-56625000	Enhancers	Rectal Mucosa Donor 31	rectum

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