Variant report

Variant	rs73537642
Chromosome Location	chr19:39326280-39326281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:169)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:169 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:39326263-39326413	HepG2	liver:	n/a	chr19:39326312-39326324
2	POLR2A	chr19:39325351-39335703	K562	blood:	n/a	n/a
3	POLR2A	chr19:39326009-39326979	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:39325898-39327104	HCT-116	colon:	n/a	n/a
5	POLR2A	chr19:39325903-39327016	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:39325224-39327147	GM12891	blood:	n/a	n/a
7	ETS1	chr19:39325938-39327074	A549	lung:	n/a	n/a
8	POLR2A	chr19:39325327-39327188	K562	blood:	n/a	n/a
9	BCLAF1	chr19:39325985-39326542	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:39325991-39326936	GM12878	blood:	n/a	n/a
11	GATA3	chr19:39325989-39326502	MCF-7	breast:	n/a	n/a
12	ATF3	chr19:39325878-39326580	A549	lung:	n/a	n/a
13	ATF2	chr19:39326050-39326583	GM12878	blood:	n/a	n/a
14	BCL3	chr19:39325179-39327051	A549	lung:	n/a	n/a
15	FOXA1	chr19:39326074-39326347	T-47D	breast:	n/a	n/a
16	POLR2A	chr19:39325914-39326950	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr19:39325852-39326941	A549	lung:	n/a	n/a
18	POLR2A	chr19:39325875-39326938	HUVEC	blood vessel:	n/a	n/a
19	GATA3	chr19:39325919-39326441	T-47D	breast:	n/a	n/a
20	POLR2A	chr19:39325878-39326521	ECC-1	luminal epithelium:	n/a	n/a
21	TCF12	chr19:39325816-39326620	SK-N-SH	brain:	n/a	n/a
22	FOS	chr19:39326055-39326394	MCF10A-Er-Src	breast:	n/a	chr19:39326312-39326324
23	PML	chr19:39325902-39327130	K562	blood:	n/a	n/a
24	POLR2A	chr19:39325825-39327117	HepG2	liver:	n/a	n/a
25	ETS1	chr19:39326031-39326479	A549	lung:	n/a	n/a
26	FOSL2	chr19:39326000-39326427	A549	lung:	n/a	chr19:39326312-39326324
27	POLR2A	chr19:39324470-39344503	PANC-1	pancreas:	n/a	n/a
28	SIN3AK20	chr19:39325948-39327022	A549	lung:	n/a	n/a
29	SP1	chr19:39325835-39326928	A549	lung:	n/a	n/a
30	POLR2A	chr19:39325896-39330910	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:39325927-39327037	HL-60	blood:	n/a	n/a
32	JUND	chr19:39325898-39326559	SK-N-SH	brain:	n/a	chr19:39326312-39326324
33	GATA2	chr19:39326010-39326307	SH-SY5Y	brain:	n/a	n/a
34	POLR2A	chr19:39325826-39326312	HCT-116	colon:	n/a	n/a
35	POLR2A	chr19:39325377-39335667	A549	lung:	n/a	n/a
36	TCF12	chr19:39325292-39327031	A549	lung:	n/a	n/a
37	NFIC	chr19:39326031-39326515	GM12878	blood:	n/a	n/a
38	PBX3	chr19:39325905-39326994	A549	lung:	n/a	n/a
39	STAT5A	chr19:39326011-39326501	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:39325226-39343915	GM12878	blood:	n/a	n/a
41	FOXA2	chr19:39325919-39326506	A549	lung:	n/a	n/a
42	ATF2	chr19:39326167-39327035	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:39325298-39335742	GM12892	blood:	n/a	n/a
44	POLR2A	chr19:39326051-39327104	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:39326269-39326719	HepG2	liver:	n/a	n/a
46	MAX	chr19:39325951-39326408	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr19:39313168-39344379	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr19:39325268-39330971	PFSK-1	brain:	n/a	n/a
49	MAX	chr19:39325841-39327002	A549	lung:	n/a	n/a
50	PBX3	chr19:39325911-39326487	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
2	chr19:39324931..39327493-chr19:39358939..39361060,2	MCF-7	breast:
3	chr19:39315714..39318484-chr19:39324884..39327703,2	K562	blood:
4	chr19:39218553..39228703-chr19:39324875..39331730,17	MCF-7	breast:
5	chr19:39325997..39327543-chr19:39409428..39411815,2	K562	blood:
6	chr19:39325391..39328182-chr19:39375242..39377449,2	K562	blood:

No data

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000269050	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000187994	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10401746	1.00[ASN][1000 genomes]
rs10405685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13346505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391081	1.00[EUR][1000 genomes]
rs57403354	1.00[EUR][1000 genomes]
rs58188607	1.00[EUR][1000 genomes]
rs73537640	1.00[ASN][1000 genomes]
rs8100689	1.00[ASN][1000 genomes]
rs8100781	1.00[ASN][1000 genomes]
rs8112471	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv961291	chr19:39324891-39329561	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39322400-39331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39322600-39326400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:39322600-39326600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:39322600-39327400	Weak transcription	Small Intestine	intestine
5	chr19:39322800-39326400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:39323000-39327200	Weak transcription	Brain Angular Gyrus	brain
7	chr19:39323000-39334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:39323200-39326400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:39323200-39326400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:39323200-39326400	Weak transcription	NHLF	lung
11	chr19:39323200-39326600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:39323200-39326600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:39323200-39326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:39323200-39327000	Weak transcription	NHDF-Ad	bronchial
15	chr19:39323200-39327400	Weak transcription	Aorta	Aorta
16	chr19:39323400-39326400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:39323400-39326400	Weak transcription	Pancreas	Pancrea
18	chr19:39323400-39326400	Weak transcription	Spleen	Spleen
19	chr19:39323400-39326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:39323400-39327600	Weak transcription	Right Atrium	heart
21	chr19:39323800-39326400	Weak transcription	Psoas Muscle	Psoas
22	chr19:39324600-39338000	Strong transcription	Fetal Brain Female	brain
23	chr19:39325000-39327600	Strong transcription	Fetal Intestine Small	intestine
24	chr19:39325000-39334000	Strong transcription	Fetal Stomach	stomach
25	chr19:39325200-39326400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr19:39325200-39331600	Strong transcription	Primary T cells from cord blood	blood
27	chr19:39325400-39326400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:39325400-39327000	Genic enhancers	Fetal Muscle Leg	muscle
29	chr19:39325400-39327800	Strong transcription	Lung	lung
30	chr19:39325400-39328600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:39325400-39329200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:39325400-39329800	Genic enhancers	Fetal Lung	lung
33	chr19:39325400-39331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:39325400-39331600	Strong transcription	Fetal Thymus	thymus
35	chr19:39325400-39332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:39325400-39332200	Strong transcription	Thymus	Thymus
37	chr19:39325400-39336800	Strong transcription	Brain Substantia Nigra	brain
38	chr19:39325400-39337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:39325400-39337800	Strong transcription	Brain Cingulate Gyrus	brain
40	chr19:39325400-39338000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:39325400-39338200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:39325400-39338200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:39325600-39326400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:39325600-39326600	Strong transcription	Esophagus	oesophagus
45	chr19:39325600-39326600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr19:39325600-39327600	Genic enhancers	Osteobl	bone
47	chr19:39325600-39329400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:39325600-39333600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:39325600-39338000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:39325800-39328400	Strong transcription	Duodenum Mucosa	Duodenum

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