Variant report

Variant	rs550202583
Chromosome Location	chr19:42902896-42902897
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
2	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
3	chr19:42901625..42903508-chr19:42904581..42908984,3	K562	blood:
4	chr19:42895668..42898012-chr19:42901990..42905454,3	K562	blood:
5	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
6	chr19:42894017..42895736-chr19:42900827..42903287,2	MCF-7	breast:
7	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
8	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079435	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105427	Chromatin interaction
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv911789	chr19:42901430-42906725	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42901800-42905400	Weak transcription	Aorta	Aorta
2	chr19:42902000-42903200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:42902200-42903800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42902200-42905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:42902200-42905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:42902200-42905000	Weak transcription	Fetal Muscle Leg	muscle
7	chr19:42902200-42905200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:42902200-42905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:42902200-42905200	Weak transcription	Primary T cells from cord blood	blood
12	chr19:42902200-42905200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:42902200-42905200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:42902200-42905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:42902200-42905200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:42902200-42905200	Weak transcription	Fetal Brain Male	brain
17	chr19:42902200-42905200	Weak transcription	Fetal Intestine Large	intestine
18	chr19:42902200-42905200	Weak transcription	Fetal Lung	lung
19	chr19:42902200-42905200	Weak transcription	Fetal Thymus	thymus
20	chr19:42902200-42905200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:42902200-42905200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:42902200-42905200	Weak transcription	Stomach Mucosa	stomach
23	chr19:42902200-42905400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:42902200-42905400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:42902200-42905400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:42902200-42905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:42902200-42905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:42902200-42905400	Weak transcription	Brain Substantia Nigra	brain
29	chr19:42902200-42905400	Weak transcription	Left Ventricle	heart
30	chr19:42902200-42905400	Weak transcription	Lung	lung
31	chr19:42902200-42905400	Weak transcription	Psoas Muscle	Psoas
32	chr19:42902200-42905400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:42902200-42905400	Weak transcription	Right Atrium	heart
34	chr19:42902200-42905400	Weak transcription	HSMM	muscle
35	chr19:42902200-42905400	Weak transcription	HSMMtube	muscle
36	chr19:42902200-42905600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:42902200-42905600	Weak transcription	Small Intestine	intestine
38	chr19:42902400-42903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:42902400-42903000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:42902400-42903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:42902400-42903200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:42902400-42903200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr19:42902400-42903200	Active TSS	Esophagus	oesophagus
44	chr19:42902400-42903400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:42902400-42903400	Weak transcription	Pancreas	Pancrea
46	chr19:42902400-42903400	Weak transcription	K562	blood
47	chr19:42902400-42903800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:42902400-42904200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:42902400-42904200	Weak transcription	Fetal Stomach	stomach
50	chr19:42902400-42904200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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