Variant report

Variant	rs561607912
Chromosome Location	chr19:56103673-56103674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56101839..56104195-chr19:56150974..56153633,2	K562	blood:
2	chr19:56103233..56104833-chr19:56105149..56107018,2	MCF-7	breast:
3	chr19:56097065..56098659-chr19:56102630..56104410,2	MCF-7	breast:
4	chr19:56098521..56100588-chr19:56100809..56103773,2	MCF-7	breast:
5	chr19:56098773..56102057-chr19:56102785..56106000,5	K562	blood:

Variant related genes	Relation type
ENSG00000171425	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000213015	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv3436946	chr19:56102240-56106638	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	esv3419513	chr19:56103040-56105838	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	esv3357075	chr19:56103490-56105838	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3356414	chr19:56103565-56106113	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56097800-56106600	Weak transcription	Aorta	Aorta
2	chr19:56098800-56104800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:56098800-56106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56098800-56106200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:56098800-56106200	Weak transcription	Small Intestine	intestine
6	chr19:56098800-56106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:56098800-56106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:56098800-56106600	Weak transcription	HSMMtube	muscle
9	chr19:56098800-56109800	Weak transcription	Fetal Heart	heart
10	chr19:56099000-56103800	Weak transcription	Right Ventricle	heart
11	chr19:56099000-56105800	Weak transcription	HSMM	muscle
12	chr19:56099000-56106200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:56099000-56106200	Weak transcription	Psoas Muscle	Psoas
14	chr19:56099000-56106200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:56099000-56106800	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:56099000-56106800	Weak transcription	NHDF-Ad	bronchial
17	chr19:56099000-56107000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:56099200-56104800	Weak transcription	NHEK	skin
19	chr19:56099200-56105000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:56099200-56105000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:56099200-56105000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:56099200-56105000	Weak transcription	NH-A	brain
23	chr19:56099200-56106200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:56099200-56106200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:56099200-56106200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:56099200-56106200	Weak transcription	GM12878-XiMat	blood
27	chr19:56099200-56106200	Weak transcription	Hela-S3	cervix
28	chr19:56099200-56106200	Weak transcription	Osteobl	bone
29	chr19:56099200-56106400	Weak transcription	Fetal Brain Male	brain
30	chr19:56099200-56106400	Weak transcription	Fetal Kidney	kidney
31	chr19:56099200-56106400	Weak transcription	HepG2	liver
32	chr19:56099200-56106400	Weak transcription	HUVEC	blood vessel
33	chr19:56099200-56107000	Weak transcription	HMEC	breast
34	chr19:56099200-56110000	Weak transcription	Right Atrium	heart
35	chr19:56099400-56105000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr19:56099400-56106000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:56099400-56106400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:56099600-56106200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:56099800-56106200	Weak transcription	Primary B cells from cord blood	blood
40	chr19:56099800-56106200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:56099800-56110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr19:56099800-56110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:56100000-56105000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:56100000-56106400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:56100000-56109800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:56101600-56104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:56102000-56105000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:56102000-56106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:56102000-56109800	Strong transcription	Fetal Stomach	stomach
50	chr19:56102200-56105000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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