Variant report

Variant	rs17526161
Chromosome Location	chr19:38755006-38755007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr19:38754374-38755676	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:38754439-38755731	GM19099	blood:	n/a	n/a
3	ZEB1	chr19:38754727-38755522	GM12878	blood:	n/a	chr19:38755073-38755084 chr19:38755075-38755084 chr19:38755151-38755160 chr19:38755468-38755480
4	STAT3	chr19:38754394-38755014	MCF10A-Er-Src	breast:	n/a	chr19:38754997-38755009 chr19:38754872-38754883
5	MAX	chr19:38754821-38755047	K562	blood:	n/a	chr19:38754896-38754906
6	YY1	chr19:38754458-38755740	ECC-1	luminal epithelium:	n/a	chr19:38755160-38755169 chr19:38755098-38755109 chr19:38755158-38755172
7	SIN3AK20	chr19:38754393-38756546	MCF-7	breast:	n/a	n/a
8	MAX	chr19:38754407-38756101	A549	lung:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
9	FOSL2	chr19:38754222-38756721	A549	lung:	n/a	chr19:38755003-38755012 chr19:38754998-38755007
10	KAP1	chr19:38754499-38755533	HEK293	kidney:	n/a	n/a
11	TCF12	chr19:38754470-38756118	ECC-1	luminal epithelium:	n/a	chr19:38755133-38755143 chr19:38755469-38755476
12	POLR2A	chr19:38754702-38755038	ECC-1	luminal epithelium:	n/a	n/a
13	SP1	chr19:38754448-38756633	A549	lung:	n/a	chr19:38755066-38755075 chr19:38755064-38755076 chr19:38754996-38755005 chr19:38755001-38755010 chr19:38755661-38755670 chr19:38755002-38755011 chr19:38755000-38755012 chr19:38754996-38755005 chr19:38755064-38755075 chr19:38755042-38755054 chr19:38754897-38754911 chr19:38754996-38755010 chr19:38754995-38755007 chr19:38755662-38755671 chr19:38755158-38755170 chr19:38755159-38755168 chr19:38755159-38755169 chr19:38755043-38755052 chr19:38754997-38755006 chr19:38754995-38755007 chr19:38755159-38755173 chr19:38755001-38755010 chr19:38755660-38755672 chr19:38755000-38755012 chr19:38755671-38755685 chr19:38755064-38755076 chr19:38755159-38755169 chr19:38755160-38755169 chr19:38755043-38755057 chr19:38755159-38755168 chr19:38755158-38755170 chr19:38755657-38755671
14	YY1	chr19:38754423-38755063	A549	lung:	n/a	n/a
15	FOXA2	chr19:38754491-38756225	A549	lung:	n/a	n/a
16	POLR2A	chr19:38754494-38756891	PBDE	blood:	n/a	n/a
17	POLR2A	chr19:38754574-38756083	A549	lung:	n/a	n/a
18	BCL3	chr19:38754388-38756908	A549	lung:	n/a	chr19:38755093-38755106 chr19:38754838-38754851
19	MAX	chr19:38754475-38756180	MCF-7	breast:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
20	MAX	chr19:38754492-38755660	MCF-7	breast:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
21	MYC	chr19:38754814-38755673	MCF-7	breast:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
22	POLR2A	chr19:38754350-38755664	GM12891	blood:	n/a	n/a
23	REST	chr19:38754269-38756979	A549	lung:	n/a	chr19:38755311-38755324 chr19:38755159-38755172 chr19:38755069-38755082 chr19:38755091-38755101 chr19:38755060-38755073
24	E2F4	chr19:38754853-38755403	MCF10A-Er-Src	breast:	n/a	chr19:38755123-38755132 chr19:38755160-38755169
25	POLR2A	chr19:38754637-38755793	H1-neurons	neurons:	n/a	n/a
26	SIN3A	chr19:38754563-38756525	H1-hESC	embryonic stem cell:	n/a	n/a
27	NR2F2	chr19:38754516-38755509	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:38754594-38755662	GM12878	blood:	n/a	n/a
29	SP4	chr19:38754643-38755253	H1-hESC	embryonic stem cell:	n/a	chr19:38755156-38755172 chr19:38755064-38755075 chr19:38755158-38755174 chr19:38754890-38754906 chr19:38755040-38755056
30	TCF12	chr19:38754758-38755019	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr19:38754485-38756087	ECC-1	luminal epithelium:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
32	TCF12	chr19:38754491-38755744	ECC-1	luminal epithelium:	n/a	chr19:38755133-38755143 chr19:38755469-38755476
33	ELF1	chr19:38754248-38755031	A549	lung:	n/a	n/a
34	EGR1	chr19:38754742-38755063	K562	blood:	n/a	chr19:38754890-38754904 chr19:38754893-38754903 chr19:38754892-38754907 chr19:38754894-38754904 chr19:38754893-38754906 chr19:38754893-38754906
35	REST	chr19:38754442-38756035	H1-neurons	neurons:	n/a	chr19:38755311-38755324 chr19:38755159-38755172 chr19:38755069-38755082 chr19:38755091-38755101 chr19:38755060-38755073
36	MAX	chr19:38754535-38756126	ECC-1	luminal epithelium:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
37	MAX	chr19:38754257-38757147	A549	lung:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
38	RUNX3	chr19:38754281-38755042	GM12878	blood:	n/a	n/a
39	SP1	chr19:38754251-38756454	A549	lung:	n/a	chr19:38755066-38755075 chr19:38755064-38755076 chr19:38754996-38755005 chr19:38755001-38755010 chr19:38755661-38755670 chr19:38755002-38755011 chr19:38755000-38755012 chr19:38754996-38755005 chr19:38755064-38755075 chr19:38755042-38755054 chr19:38754897-38754911 chr19:38754996-38755010 chr19:38754995-38755007 chr19:38755662-38755671 chr19:38755158-38755170 chr19:38755159-38755168 chr19:38755159-38755169 chr19:38755043-38755052 chr19:38754997-38755006 chr19:38754995-38755007 chr19:38755159-38755173 chr19:38755001-38755010 chr19:38755660-38755672 chr19:38755000-38755012 chr19:38755671-38755685 chr19:38755064-38755076 chr19:38755159-38755169 chr19:38755160-38755169 chr19:38755043-38755057 chr19:38755159-38755168 chr19:38755158-38755170 chr19:38755657-38755671
40	POLR2A	chr19:38754399-38755762	GM18505	blood:	n/a	n/a
41	POLR2A	chr19:38754587-38756105	MCF-7	breast:	n/a	n/a
42	TAF1	chr19:38754608-38755866	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr19:38754602-38756185	A549	lung:	n/a	n/a
44	MAX	chr19:38754408-38755719	H1-hESC	embryonic stem cell:	n/a	chr19:38755165-38755175 chr19:38754896-38754906
45	POLR2A	chr19:38754603-38756222	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:38754497-38756386	HCT-116	colon:	n/a	n/a
47	TCF3	chr19:38754852-38755706	GM12878	blood:	n/a	n/a
48	EGR1	chr19:38754657-38755484	MCF-7	breast:	n/a	chr19:38755175-38755185 chr19:38754890-38754904 chr19:38754893-38754903 chr19:38754892-38754907 chr19:38754894-38754904 chr19:38755159-38755169 chr19:38755447-38755456 chr19:38755446-38755455 chr19:38754893-38754906 chr19:38755292-38755305 chr19:38754893-38754906 chr19:38755123-38755132
49	POLR2A	chr19:38754615-38756112	MCF-7	breast:	n/a	n/a
50	JUND	chr19:38754442-38756269	A549	lung:	n/a	chr19:38755003-38755012 chr19:38754998-38755007

No.	Distal block	Cell Line	Cell type
1	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
2	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
3	chr19:38753833..38757251-chr19:38808796..38812283,9	MCF-7	breast:
4	chr19:38714374..38716736-chr19:38753965..38756092,2	MCF-7	breast:
5	chr19:38745311..38747028-chr19:38754181..38756021,2	MCF-7	breast:
6	chr19:38753863..38756169-chr22:39637561..39639361,2	MCF-7	breast:
7	chr19:38752235..38756779-chr19:38783718..38786830,7	MCF-7	breast:
8	chr19:38753926..38756538-chr19:38833889..38836607,2	MCF-7	breast:
9	chr19:38753883..38755727-chr19:38805197..38807267,2	MCF-7	breast:
10	chr19:38753937..38756073-chr19:39903139..39906135,2	MCF-7	breast:
11	chr1:1709649..1710519-chr19:38754992..38755620,2	HCT-116	colon:
12	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
13	chr19:38746268..38750016-chr19:38754499..38757878,4	K562	blood:
14	chr19:38753341..38760825-chr19:38779856..38783291,10	MCF-7	breast:
15	chr19:38753884..38755807-chr19:38870034..38871603,2	MCF-7	breast:
16	chr19:38753811..38757692-chr19:38863788..38867160,7	MCF-7	breast:

Variant related genes	Relation type
SPINT2	TF binding region
ENSG00000167642	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000100311	Chromatin interaction
ENSG00000008130	Chromatin interaction
ENSG00000200209	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3786874	0.93[ASN][1000 genomes]
rs3786875	0.93[ASN][1000 genomes]
rs73037307	0.89[ASN][1000 genomes]
rs73037309	0.93[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38753600-38755800	Enhancers	HepG2	liver
2	chr19:38754000-38755200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:38754200-38755200	Enhancers	Stomach Mucosa	stomach
4	chr19:38754200-38755200	Flanking Active TSS	GM12878-XiMat	blood
5	chr19:38754200-38757000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr19:38754200-38757000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:38754400-38755200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
8	chr19:38754400-38755200	Flanking Active TSS	Right Ventricle	heart
9	chr19:38754400-38755400	Enhancers	HSMMtube	muscle
10	chr19:38754400-38755400	Enhancers	NHDF-Ad	bronchial
11	chr19:38754400-38755600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:38754400-38755600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:38754400-38755600	Active TSS	Fetal Brain Female	brain
14	chr19:38754400-38755800	Enhancers	Fetal Brain Male	brain
15	chr19:38754400-38756000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:38754400-38756200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:38754400-38756200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:38754400-38756400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:38754400-38756600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr19:38754400-38756600	Active TSS	Aorta	Aorta
21	chr19:38754400-38756600	Active TSS	Brain Cingulate Gyrus	brain
22	chr19:38754400-38756600	Active TSS	Pancreas	Pancrea
23	chr19:38754400-38756800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:38754400-38756800	Active TSS	Brain Angular Gyrus	brain
25	chr19:38754400-38756800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:38754600-38755200	Flanking Active TSS	Osteobl	bone
27	chr19:38754600-38755400	Flanking Active TSS	Lung	lung
28	chr19:38754600-38755400	Flanking Active TSS	HSMM	muscle
29	chr19:38754600-38755600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:38754600-38755600	Active TSS	Primary T cells from cord blood	blood
31	chr19:38754600-38755600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:38754600-38755600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:38754600-38755600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:38754600-38755600	Flanking Active TSS	Liver	Liver
35	chr19:38754600-38755600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr19:38754600-38755600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr19:38754600-38755600	Flanking Active TSS	HUVEC	blood vessel
38	chr19:38754600-38755800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr19:38754600-38755800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:38754600-38755800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr19:38754600-38756000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:38754600-38756200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:38754600-38756200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr19:38754600-38756400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr19:38754600-38756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:38754600-38756600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:38754600-38756600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr19:38754600-38759000	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:38754800-38755200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:38754800-38755200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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