Variant report

Variant	rs70937099
Chromosome Location	chr19:42907064-42907065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
2	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
3	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
4	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079435	Chromatin interaction
ENSG00000213904	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	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
4	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
5	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
6	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
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911790	chr19:42901430-42908074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv911791	chr19:42901430-42909478	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
12	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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	15 gene(s)	inside rSNPs	diseases
14	nsv579632	chr19:42904653-42912403	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
15	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
16	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42905600-42907200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:42906200-42907200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:42906200-42907200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:42906200-42911000	Weak transcription	Gastric	stomach
5	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:42906400-42907200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:42906400-42907200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:42906400-42907200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr19:42906400-42907800	Weak transcription	Dnd41	blood
10	chr19:42906400-42908800	Weak transcription	GM12878-XiMat	blood
11	chr19:42906400-42910000	Weak transcription	Left Ventricle	heart
12	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
13	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
14	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
15	chr19:42906400-42913600	Weak transcription	HSMM	muscle
16	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:42906400-42916200	Weak transcription	HMEC	breast
18	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
20	chr19:42906600-42907200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr19:42906600-42907200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:42906600-42907200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:42906600-42907200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:42906600-42907200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr19:42906600-42907200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:42906600-42907400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:42906600-42907400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr19:42906600-42907400	Flanking Active TSS	Fetal Brain Female	brain
29	chr19:42906600-42907400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:42906600-42908000	Enhancers	Fetal Brain Male	brain
31	chr19:42906600-42909400	Weak transcription	NHLF	lung
32	chr19:42906600-42910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:42906600-42911000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:42906600-42911400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:42906600-42913600	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
38	chr19:42906800-42907200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr19:42906800-42907200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr19:42906800-42907200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr19:42906800-42907200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:42906800-42907200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr19:42906800-42907200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr19:42906800-42907200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:42906800-42907200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:42906800-42907200	Enhancers	Brain Cingulate Gyrus	brain
47	chr19:42906800-42907200	Enhancers	Esophagus	oesophagus
48	chr19:42906800-42907200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:42906800-42907200	Flanking Active TSS	Pancreas	Pancrea
50	chr19:42906800-42907400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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