Variant report

Variant	rs565197061
Chromosome Location	chr19:42788946-42788947
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
3	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
4	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
5	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
6	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
7	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
8	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
9	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000160932	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000268643	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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	53 gene(s)	inside rSNPs	diseases
7	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
8	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
10	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
11	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
13	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	esv11470	chr19:42786911-42789522	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv3373500	chr19:42786937-42789485	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
16	esv3399835	chr19:42787212-42789685	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
17	esv1800204	chr19:42787848-42788951	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 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	chr19:42787400-42789400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:42787600-42789200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42787600-42789200	Active TSS	Aorta	Aorta
4	chr19:42787600-42789400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:42787600-42789400	Active TSS	Ovary	ovary
6	chr19:42787800-42789000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:42787800-42789000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:42787800-42789000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:42787800-42789000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:42787800-42789000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:42787800-42789000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:42787800-42789000	Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr19:42787800-42789000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:42787800-42789000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr19:42787800-42789000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:42787800-42789000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:42787800-42789000	Active TSS	Brain Angular Gyrus	brain
18	chr19:42787800-42789000	Active TSS	Brain Anterior Caudate	brain
19	chr19:42787800-42789000	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:42787800-42789000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:42787800-42789000	Active TSS	Duodenum Mucosa	Duodenum
22	chr19:42787800-42789000	Active TSS	Gastric	stomach
23	chr19:42787800-42789000	Active TSS	Left Ventricle	heart
24	chr19:42787800-42789000	Active TSS	Pancreas	Pancrea
25	chr19:42787800-42789000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:42787800-42789000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr19:42787800-42789000	Active TSS	Right Ventricle	heart
28	chr19:42787800-42789000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr19:42787800-42789000	Active TSS	Small Intestine	intestine
30	chr19:42787800-42789000	Active TSS	Thymus	Thymus
31	chr19:42787800-42789000	Active TSS	Hela-S3	cervix
32	chr19:42787800-42789000	Active TSS	HUVEC	blood vessel
33	chr19:42787800-42789000	Active TSS	K562	blood
34	chr19:42787800-42789200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:42787800-42789200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:42787800-42789200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:42787800-42789200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:42787800-42789200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:42787800-42789200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:42787800-42789200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr19:42787800-42789200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr19:42787800-42789200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:42787800-42789200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:42787800-42789200	Active TSS	Brain Germinal Matrix	brain
45	chr19:42787800-42789200	Active TSS	Lung	lung
46	chr19:42787800-42789200	Active TSS	Psoas Muscle	Psoas
47	chr19:42787800-42789200	Active TSS	GM12878-XiMat	blood
48	chr19:42787800-42789200	Active TSS	HSMM	muscle
49	chr19:42787800-42789200	Active TSS	HSMMtube	muscle
50	chr19:42787800-42789400	Active TSS	HUES64 Cell Line	embryonic stem cell

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