Variant report

Variant	rs73037346
Chromosome Location	chr19:38801267-38801268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38801093-38802470	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr19:38801117-38802110	A549	lung:	n/a	n/a
3	POLR2A	chr19:38801223-38801280	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:38797681-38802572	A549	lung:	n/a	n/a
5	POLR2A	chr19:38801168-38802341	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:38801225-38801698	A549	lung:	n/a	n/a
7	POLR2A	chr19:38801235-38801613	A549	lung:	n/a	n/a
8	POLR2A	chr19:38801045-38802296	K562	blood:	n/a	n/a
9	BCL3	chr19:38800999-38801761	A549	lung:	n/a	n/a
10	POLR2A	chr19:38800879-38801553	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:38801000-38802541	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:38797487-38801981	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr19:38800994-38801451	HCT-116	colon:	n/a	n/a
14	POLR2A	chr19:38801262-38801559	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38796381..38798650-chr19:38799992..38801610,2	K562	blood:
2	chr19:38800007..38802686-chr19:38805252..38808238,5	K562	blood:
3	chr19:38795298..38801659-chr19:38801673..38807893,10	K562	blood:
4	chr19:38724017..38726081-chr19:38800936..38802503,2	MCF-7	breast:
5	chr19:38755064..38756730-chr19:38799714..38801909,2	MCF-7	breast:

No data

Variant related genes	Relation type
YIF1B	TF binding region
ENSG00000167645	Chromatin interaction
ENSG00000167642	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3885340	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61734615	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73037321	1.00[EUR][1000 genomes]
rs73037333	0.97[EUR][1000 genomes]
rs73037343	1.00[EUR][1000 genomes]
rs73041292	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73043012	0.87[EUR][1000 genomes]
rs73043013	0.87[EUR][1000 genomes]
rs73043014	0.87[EUR][1000 genomes]
rs73043015	0.87[EUR][1000 genomes]
rs73043019	0.87[EUR][1000 genomes]
rs73043021	0.87[EUR][1000 genomes]
rs73043022	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73043027	0.87[EUR][1000 genomes]
rs73043028	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73043029	0.84[EUR][1000 genomes]
rs73043030	0.84[EUR][1000 genomes]
rs73043033	0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
2	chr19:38781200-38805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:38782000-38806000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:38784000-38805800	Weak transcription	Primary B cells from cord blood	blood
5	chr19:38792000-38805400	Weak transcription	NHDF-Ad	bronchial
6	chr19:38792000-38805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:38795200-38805800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:38795400-38805800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:38795600-38805800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:38795800-38801800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:38796000-38803400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:38796200-38804400	Weak transcription	NH-A	brain
13	chr19:38796200-38805400	Weak transcription	HepG2	liver
14	chr19:38796400-38801600	Strong transcription	Fetal Stomach	stomach
15	chr19:38796400-38801800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:38796400-38803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:38796400-38805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:38796400-38805600	Weak transcription	Hela-S3	cervix
19	chr19:38796400-38805800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38796400-38805800	Weak transcription	HUVEC	blood vessel
21	chr19:38796600-38802400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:38796600-38805600	Weak transcription	HMEC	breast
23	chr19:38796600-38805800	Weak transcription	Fetal Heart	heart
24	chr19:38796600-38805800	Weak transcription	Stomach Mucosa	stomach
25	chr19:38796800-38802400	Strong transcription	Brain Hippocampus Middle	brain
26	chr19:38797000-38802200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:38797800-38801600	Strong transcription	Ovary	ovary
28	chr19:38797800-38801800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:38798200-38805800	Weak transcription	Small Intestine	intestine
30	chr19:38798400-38805800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:38798400-38805800	Weak transcription	Fetal Thymus	thymus
32	chr19:38798600-38805400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:38798600-38805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:38798800-38801400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:38798800-38802400	Strong transcription	NHEK	skin
36	chr19:38798800-38804200	Weak transcription	GM12878-XiMat	blood
37	chr19:38798800-38805200	Weak transcription	HSMM	muscle
38	chr19:38798800-38805600	Weak transcription	HSMMtube	muscle
39	chr19:38799000-38804200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:38799000-38805800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr19:38799200-38802400	Strong transcription	Fetal Intestine Small	intestine
42	chr19:38799200-38805600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:38799400-38804200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:38799400-38805600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:38799400-38805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:38799400-38805800	Weak transcription	Brain Substantia Nigra	brain
47	chr19:38799400-38805800	Weak transcription	Fetal Lung	lung
48	chr19:38799600-38801600	Genic enhancers	Spleen	Spleen
49	chr19:38799600-38805400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:38799600-38805400	Weak transcription	Osteobl	bone

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