Variant report

Variant	rs7252049
Chromosome Location	chr19:42747911-42747912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42745973-42747912	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:42746170-42749635	K562	blood:	n/a	n/a
3	BCL3	chr19:42746581-42748056	A549	lung:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
4	CTCF	chr19:42746342-42749547	SK-N-SH	brain:	n/a	n/a
5	GABPA	chr19:42746651-42747936	A549	lung:	n/a	n/a
6	ETS1	chr19:42746569-42747976	A549	lung:	n/a	chr19:42746924-42746937 chr19:42746774-42746787 chr19:42746848-42746861
7	POLR2A	chr19:42746351-42748014	ECC-1	luminal epithelium:	n/a	n/a
8	MTA3	chr19:42746693-42747987	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:42746203-42747927	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:42746356-42747982	H1-hESC	embryonic stem cell:	n/a	n/a
11	TRIM28	chr19:42746643-42747926	K562	blood:	n/a	n/a
12	YY1	chr19:42746491-42747937	K562	blood:	n/a	chr19:42746749-42746763 chr19:42746797-42746806
13	TBP	chr19:42746647-42747920	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:42746387-42748137	Hela-S3	cervix:	n/a	n/a
15	SP1	chr19:42746556-42748040	A549	lung:	n/a	n/a
16	ATF3	chr19:42746712-42748043	A549	lung:	n/a	chr19:42746802-42746816 chr19:42746715-42746724
17	ELF1	chr19:42746554-42747977	HCT-116	colon:	n/a	n/a
18	SIN3AK20	chr19:42746480-42747948	MCF-7	breast:	n/a	n/a
19	REST	chr19:42747042-42747931	PFSK-1	brain:	n/a	n/a
20	FOSL2	chr19:42746633-42748032	A549	lung:	n/a	n/a
21	POLR2A	chr19:42746308-42748017	MCF-7	breast:	n/a	n/a
22	POLR2A	chr19:42746573-42747993	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr19:42745743-42747917	A549	lung:	n/a	n/a
24	GABPA	chr19:42746546-42748033	A549	lung:	n/a	n/a
25	POLR2A	chr19:42746363-42747942	HUVEC	blood vessel:	n/a	n/a
26	RUNX3	chr19:42746562-42747955	GM12878	blood:	n/a	n/a
27	JUN	chr19:42745677-42748054	K562	blood:	n/a	n/a
28	POLR2A	chr19:42746533-42747991	SK-N-SH	brain:	n/a	n/a
29	MAX	chr19:42746151-42748079	K562	blood:	n/a	chr19:42746833-42746842
30	BCLAF1	chr19:42746508-42748014	K562	blood:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
31	CTCF	chr19:42747800-42747950	HCFaa	heart:	n/a	n/a
32	MAX	chr19:42746657-42747944	SK-N-SH	brain:	n/a	chr19:42746833-42746842
33	SREBP1	chr19:42746622-42747973	GM12878	blood:	n/a	n/a
34	TAF1	chr19:42746479-42747949	PFSK-1	brain:	n/a	n/a
35	E2F6	chr19:42746604-42747994	A549	lung:	n/a	chr19:42746797-42746806
36	POLR2A	chr19:42746476-42751823	MCF-7	breast:	n/a	n/a
37	POLR2A	chr19:42746384-42751008	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr19:42746543-42747946	HepG2	liver:	n/a	n/a
39	MXI1	chr19:42745522-42748046	IMR90	lung:	n/a	n/a
40	MAX	chr19:42746502-42747992	A549	lung:	n/a	chr19:42746833-42746842
41	MXI1	chr19:42745370-42749605	SK-N-SH	brain:	n/a	n/a
42	ELF1	chr19:42746608-42747946	HCT-116	colon:	n/a	n/a
43	TCF12	chr19:42745686-42752051	A549	lung:	n/a	n/a
44	SPI1	chr19:42746657-42747960	HL-60	blood:	n/a	n/a
45	PBX3	chr19:42746483-42747970	A549	lung:	n/a	n/a
46	POLR2A	chr19:42746451-42758038	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr19:42746535-42747935	K562	blood:	n/a	n/a
48	MXI1	chr19:42746573-42747920	HepG2	liver:	n/a	n/a
49	SIX5	chr19:42746552-42748053	A549	lung:	n/a	n/a
50	PML	chr19:42746676-42747979	K562	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42719158..42725942-chr19:42744280..42751391,14	MCF-7	breast:
2	chr19:42722142..42727268-chr19:42743805..42748670,12	MCF-7	breast:
3	chr19:42746881..42748655-chr19:42811057..42812701,2	K562	blood:
4	chr19:42747731..42749845-chr19:42900556..42904711,3	MCF-7	breast:
5	chr19:42746221..42749028-chr19:42806673..42809269,4	K562	blood:
6	chr19:42745106..42750336-chr19:42827948..42831181,5	K562	blood:
7	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
8	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
9	chr19:42747157..42748749-chr19:42804918..42806482,2	K562	blood:
10	chr19:42747088..42748068-chr19:42783977..42784681,2	Hela-S3	cervix:
11	chr19:42745670..42748955-chr19:42805967..42808847,6	K562	blood:
12	chr19:42747598..42750553-chr19:42828102..42831062,3	MCF-7	breast:
13	chr19:42432401..42434702-chr19:42746982..42749095,2	K562	blood:
14	chr19:42619346..42621676-chr19:42746420..42748226,2	MCF-7	breast:
15	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
16	chr19:42626781..42629013-chr19:42746028..42748919,2	K562	blood:
17	chr19:42707772..42710426-chr19:42747834..42750505,2	MCF-7	breast:
18	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
19	chr19:42746379..42748753-chr19:42901046..42902799,2	K562	blood:
20	chr19:42747027..42748730-chr19:42805186..42807872,2	MCF-7	breast:
21	chr19:42747876..42750484-chr19:42833643..42836165,2	MCF-7	breast:
22	chr19:42747001..42747936-chr7:44122025..44122598,2	Hela-S3	cervix:
23	chr19:42633522..42638694-chr19:42746138..42750554,7	MCF-7	breast:
24	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:

No data

Variant related genes	Relation type
GSK3A	TF binding region
ENSG00000188368	Chromatin interaction
ENSG00000122678	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000254887	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000266226	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5024181	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	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
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	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
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 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	chr19:42744600-42748800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:42745000-42748000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:42745200-42748200	Active TSS	HSMM	muscle
4	chr19:42745400-42748400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:42745400-42749200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42745600-42748200	Active TSS	Right Atrium	heart
7	chr19:42745600-42748800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:42745600-42749000	Active TSS	Right Ventricle	heart
9	chr19:42745600-42749200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:42745800-42748200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:42745800-42748200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:42745800-42748800	Active TSS	Gastric	stomach
13	chr19:42745800-42749000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:42745800-42749000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:42745800-42749000	Active TSS	Aorta	Aorta
16	chr19:42745800-42749000	Active TSS	Lung	lung
17	chr19:42745800-42749000	Active TSS	Ovary	ovary
18	chr19:42745800-42749200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr19:42745800-42749200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:42745800-42749200	Active TSS	Esophagus	oesophagus
21	chr19:42745800-42749200	Active TSS	Left Ventricle	heart
22	chr19:42745800-42749200	Active TSS	Stomach Mucosa	stomach
23	chr19:42745800-42749200	Active TSS	NHDF-Ad	bronchial
24	chr19:42746000-42748200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:42746000-42748200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:42746000-42748200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:42746000-42748200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:42746000-42748200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:42746000-42748200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr19:42746000-42748200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:42746000-42748200	Active TSS	HMEC	breast
32	chr19:42746000-42748200	Active TSS	Osteobl	bone
33	chr19:42746000-42748600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:42746000-42748600	Active TSS	NHLF	lung
35	chr19:42746000-42749000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr19:42746000-42749000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:42746000-42749000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:42746000-42749000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:42746000-42749000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:42746000-42749000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:42746000-42749000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:42746000-42749000	Active TSS	Fetal Lung	lung
43	chr19:42746000-42749000	Active TSS	Pancreas	Pancrea
44	chr19:42746000-42749000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr19:42746000-42749200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:42746000-42749200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr19:42746000-42749200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:42746000-42749200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr19:42746000-42749200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:42746000-42749200	Active TSS	Fetal Intestine Large	intestine

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