Variant report

Variant	rs3787047
Chromosome Location	chr19:18953670-18953671
allele	A/G
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	chr19:18948748..18952215-chr19:18952430..18955166,3	MCF-7	breast:
2	chr19:18951282..18956553-chr19:18964645..18969902,6	K562	blood:
3	chr19:18794658..18796349-chr19:18952562..18954246,2	MCF-7	breast:
4	chr19:18702800..18705540-chr19:18952574..18954426,3	K562	blood:
5	chr19:18953438..18955479-chr19:18971688..18973215,2	MCF-7	breast:
6	chr19:18951537..18953798-chr19:18974374..18976491,2	K562	blood:
7	chr19:18906334..18907889-chr19:18952110..18954764,2	MCF-7	breast:
8	chr19:18876184..18879018-chr19:18951649..18953895,2	K562	blood:
9	chr19:18702800..18705533-chr19:18952574..18954426,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006016	Chromatin interaction
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4808867	0.84[ASN][1000 genomes]
rs757113	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18945200-18956600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:18945800-18955000	Genic enhancers	Fetal Intestine Small	intestine
3	chr19:18946200-18958200	Weak transcription	Fetal Kidney	kidney
4	chr19:18947200-18958400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:18948600-18957200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr19:18948800-18954000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:18948800-18955800	Enhancers	Right Ventricle	heart
8	chr19:18948800-18956400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:18948800-18957800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:18948800-18958400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:18948800-18959000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:18949000-18954000	Weak transcription	Hela-S3	cervix
13	chr19:18949000-18954400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr19:18949000-18955200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr19:18949200-18955400	Enhancers	Liver	Liver
16	chr19:18949200-18956600	Enhancers	Left Ventricle	heart
17	chr19:18949200-18956800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:18949200-18958400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:18949800-18954400	Enhancers	Brain Hippocampus Middle	brain
20	chr19:18949800-18956800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:18949800-18958400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:18950000-18956200	Enhancers	Right Atrium	heart
23	chr19:18950000-18957800	Weak transcription	Primary B cells from cord blood	blood
24	chr19:18950200-18953800	Weak transcription	A549	lung
25	chr19:18950200-18954200	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:18950200-18955200	Enhancers	Ovary	ovary
27	chr19:18950400-18954000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr19:18950400-18955800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:18950600-18954000	Weak transcription	HSMMtube	muscle
30	chr19:18950600-18957800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:18950800-18956800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:18950800-18956800	Enhancers	Adipose Nuclei	Adipose
33	chr19:18950800-18958600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:18951000-18953800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:18951000-18953800	Weak transcription	NH-A	brain
36	chr19:18951000-18960800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:18951200-18954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:18951200-18956000	Weak transcription	NHEK	skin
39	chr19:18951200-18958400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:18951400-18953800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:18951400-18953800	Weak transcription	NHDF-Ad	bronchial
42	chr19:18951400-18954000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:18951400-18954600	Enhancers	Gastric	stomach
44	chr19:18951400-18954800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:18951400-18954800	Enhancers	Lung	lung
46	chr19:18951400-18955600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:18951400-18956600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:18951400-18956600	Enhancers	Fetal Muscle Trunk	muscle
49	chr19:18951400-18957800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:18951600-18954000	Weak transcription	HMEC	breast

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