Variant report

Variant	rs567981422
Chromosome Location	chr19:56619873-56619874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56618269..56620601-chr19:56650918..56652939,2	MCF-7	breast:
2	chr19:56617972..56620643-chr19:56620884..56623590,3	MCF-7	breast:
3	chr19:56617470..56621508-chr19:56630958..56634094,7	MCF-7	breast:
4	chr19:56619067..56621819-chr19:56683473..56686134,2	K562	blood:
5	chr19:56618895..56620681-chr19:56648201..56650740,2	K562	blood:

Variant related genes	Relation type
ENSG00000142409	Chromatin interaction
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	esv3432566	chr19:56619594-56619912	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:56602800-56620000	Weak transcription	NH-A	brain
5	chr19:56605200-56620000	Weak transcription	Fetal Kidney	kidney
6	chr19:56613200-56620000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:56615000-56620200	Weak transcription	Aorta	Aorta
8	chr19:56616000-56626600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr19:56616000-56627000	Enhancers	Liver	Liver
10	chr19:56616000-56627200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:56616200-56620800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:56616600-56620400	Enhancers	Brain Hippocampus Middle	brain
13	chr19:56617000-56620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:56617200-56620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:56617200-56620000	Weak transcription	Fetal Brain Female	brain
16	chr19:56617200-56620000	Weak transcription	HUVEC	blood vessel
17	chr19:56617200-56620400	Weak transcription	Primary T cells from cord blood	blood
18	chr19:56617200-56622000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:56617200-56622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:56617200-56624400	Weak transcription	Hela-S3	cervix
21	chr19:56617200-56629200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:56617400-56620000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:56617400-56620800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:56617400-56620800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:56617400-56621000	Genic enhancers	Lung	lung
26	chr19:56617400-56622400	Weak transcription	Fetal Brain Male	brain
27	chr19:56617400-56623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:56617600-56620000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:56617800-56620400	Genic enhancers	Pancreas	Pancrea
30	chr19:56618000-56621000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr19:56618200-56620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:56618200-56620200	Enhancers	Gastric	stomach
33	chr19:56618200-56621000	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr19:56618200-56624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:56618400-56620000	Enhancers	Right Ventricle	heart
36	chr19:56618400-56622400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:56618400-56622400	Enhancers	Primary B cells from cord blood	blood
38	chr19:56618600-56620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:56618600-56620000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:56618600-56620000	Weak transcription	Brain Germinal Matrix	brain
41	chr19:56618600-56620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:56618600-56620400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:56618600-56620400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:56618600-56620400	Strong transcription	Thymus	Thymus
45	chr19:56618600-56620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:56618600-56621200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr19:56618600-56622000	Weak transcription	A549	lung
48	chr19:56618600-56622000	Weak transcription	K562	blood
49	chr19:56618600-56630000	Weak transcription	Dnd41	blood
50	chr19:56618800-56620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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