Variant report

Variant	rs73550482
Chromosome Location	chr19:40336960-40336961
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40336233..40337167-chr6:26596570..26597367,2	HCT-116	colon:
2	chr19:40336722..40337721-chr7:5569809..5570360,2	Hela-S3	cervix:
3	chr19:40336469..40336972-chr5:40834757..40835327,2	Hela-S3	cervix:
4	chr11:62608653..62609619-chr19:40336872..40337373,2	Hela-S3	cervix:
5	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
6	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
7	chr19:40336410..40337154-chr2:85822880..85823462,2	Hela-S3	cervix:
8	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
9	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
10	chr19:39925314..39927864-chr19:40336547..40338108,2	K562	blood:
11	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
12	chr19:40336793..40337645-chr21:46493997..46494626,2	HCT-116	colon:
13	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:
14	chr19:40021563..40023552-chr19:40334495..40337354,2	K562	blood:
15	chr19:40336647..40337341-chr7:43622390..43622981,2	HCT-116	colon:
16	chr14:45430817..45431583-chr19:40336912..40337455,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000013275	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000164543	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56806809	1.00[EUR][1000 genomes]
rs57602917	1.00[EUR][1000 genomes]
rs57766389	1.00[EUR][1000 genomes]
rs57994656	1.00[EUR][1000 genomes]
rs58047685	1.00[EUR][1000 genomes]
rs58100423	1.00[EUR][1000 genomes]
rs59342345	1.00[EUR][1000 genomes]
rs59443476	1.00[EUR][1000 genomes]
rs60369807	1.00[EUR][1000 genomes]
rs61061023	1.00[EUR][1000 genomes]
rs73548515	1.00[EUR][1000 genomes]
rs73550487	1.00[EUR][1000 genomes]
rs73550494	1.00[EUR][1000 genomes]
rs73554429	1.00[EUR][1000 genomes]
rs73554434	1.00[EUR][1000 genomes]
rs73554442	1.00[EUR][1000 genomes]
rs73554444	1.00[EUR][1000 genomes]
rs73554445	1.00[EUR][1000 genomes]
rs73554463	1.00[EUR][1000 genomes]
rs73558346	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 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	chr19:40334800-40337200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:40334800-40337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:40335000-40337200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:40335400-40337200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:40335400-40337400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:40335400-40337400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:40335600-40337000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:40335600-40337400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:40335600-40337600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr19:40335600-40337600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:40335800-40337200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:40335800-40337200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:40335800-40337200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:40335800-40337200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:40335800-40337200	Active TSS	GM12878-XiMat	blood
18	chr19:40335800-40337200	Active TSS	NHDF-Ad	bronchial
19	chr19:40335800-40337200	Active TSS	NHLF	lung
20	chr19:40335800-40337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr19:40335800-40337400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:40335800-40337600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:40335800-40337600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr19:40335800-40337800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:40335800-40338000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:40336000-40337200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:40336000-40337200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:40336000-40337200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr19:40336000-40337200	Active TSS	Fetal Intestine Large	intestine
30	chr19:40336000-40337200	Active TSS	A549	lung
31	chr19:40336000-40337200	Active TSS	HMEC	breast
32	chr19:40336000-40337200	Active TSS	HSMMtube	muscle
33	chr19:40336000-40337200	Active TSS	K562	blood
34	chr19:40336000-40337400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:40336000-40337400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:40336000-40337400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:40336000-40337400	Active TSS	Gastric	stomach
38	chr19:40336000-40337600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:40336000-40337600	Active TSS	Ovary	ovary
40	chr19:40336000-40337800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr19:40336200-40337000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr19:40336200-40337200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:40336200-40337200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:40336200-40337200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:40336200-40337200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:40336200-40337200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:40336200-40337200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:40336200-40337200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr19:40336200-40337200	Active TSS	Fetal Heart	heart
50	chr19:40336200-40337200	Active TSS	Fetal Intestine Small	intestine

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