Variant report

Variant	rs536685154
Chromosome Location	chr19:42907267-42907268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
2	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
3	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42911000	Weak transcription	Gastric	stomach
2	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:42906400-42907800	Weak transcription	Dnd41	blood
4	chr19:42906400-42908800	Weak transcription	GM12878-XiMat	blood
5	chr19:42906400-42910000	Weak transcription	Left Ventricle	heart
6	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
7	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
8	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
9	chr19:42906400-42913600	Weak transcription	HSMM	muscle
10	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:42906400-42916200	Weak transcription	HMEC	breast
12	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
14	chr19:42906600-42907400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:42906600-42907400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr19:42906600-42907400	Flanking Active TSS	Fetal Brain Female	brain
17	chr19:42906600-42907400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr19:42906600-42908000	Enhancers	Fetal Brain Male	brain
19	chr19:42906600-42909400	Weak transcription	NHLF	lung
20	chr19:42906600-42910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:42906600-42911000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:42906600-42911400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:42906600-42913600	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
26	chr19:42906800-42907400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:42906800-42907400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:42906800-42907400	Genic enhancers	Right Ventricle	heart
29	chr19:42906800-42907400	ZNF genes & repeats	Thymus	Thymus
30	chr19:42906800-42907600	Enhancers	Brain Hippocampus Middle	brain
31	chr19:42906800-42907800	Genic enhancers	Adipose Nuclei	Adipose
32	chr19:42906800-42908800	Weak transcription	Primary B cells from cord blood	blood
33	chr19:42906800-42908800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:42906800-42908800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:42906800-42908800	Weak transcription	Fetal Intestine Large	intestine
36	chr19:42906800-42909600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:42906800-42909800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:42906800-42910000	Weak transcription	Right Atrium	heart
39	chr19:42906800-42910200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:42906800-42910400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:42906800-42910800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr19:42906800-42913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
44	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:42906800-42924000	Weak transcription	A549	lung
47	chr19:42906800-42924400	Weak transcription	Osteobl	bone
48	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:42907000-42907400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:42907000-42907400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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