Variant report

Variant	rs56138958
Chromosome Location	chr19:35756735-35756736
allele	C/T
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	POLR2A	chr19:35754617-35758779	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr19:35756605-35760886	GM19193	blood:	n/a	n/a
3	FOS	chr19:35756589-35756873	MCF10A-Er-Src	breast:	n/a	chr19:35756745-35756752 chr19:35756743-35756755 chr19:35756745-35756753 chr19:35756744-35756754 chr19:35756744-35756753
4	POLR2A	chr19:35756735-35759378	HCT-116	colon:	n/a	n/a
5	POLR2A	chr19:35754823-35759078	PBDE	blood:	n/a	n/a
6	POLR2A	chr19:35754928-35760887	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:35754084-35759312	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:35754965-35760872	K562	blood:	n/a	n/a
9	POLR2A	chr19:35755235-35756842	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:35756540-35757051	ProgFib	skin:	n/a	n/a
11	POLR2A	chr19:35754917-35759308	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:35751612-35760840	K562	blood:	n/a	n/a
13	POLR2A	chr19:35754833-35756779	HL-60	blood:	n/a	n/a
14	POLR2A	chr19:35751524-35759415	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:35754928-35759882	K562	blood:	n/a	n/a
16	POLR2A	chr19:35754868-35757342	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr19:35754937-35759358	K562	blood:	n/a	n/a
18	POLR2A	chr19:35755421-35757718	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:35754929-35759928	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:35756659-35756848	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:35755910-35759378	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr19:35756536-35756773	GM12878	blood:	n/a	n/a
23	FOS	chr19:35756618-35756854	MCF10A-Er-Src	breast:	n/a	chr19:35756745-35756752 chr19:35756743-35756755 chr19:35756745-35756753 chr19:35756744-35756754 chr19:35756744-35756753
24	POLR2A	chr19:35754913-35759311	GM12891	blood:	n/a	n/a
25	POLR2A	chr19:35755244-35757351	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:35755910-35756810	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:35754961-35760825	GM18505	blood:	n/a	n/a
28	POLR2A	chr19:35755048-35759310	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:35755996-35756739	A549	lung:	n/a	n/a
30	POLR2A	chr19:35754910-35759941	K562	blood:	n/a	n/a
31	TCF12	chr19:35754750-35759258	A549	lung:	n/a	chr19:35757445-35757455 chr19:35759218-35759228
32	POLR2A	chr19:35755202-35759271	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:35752075-35759311	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:35751472-35759661	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr19:35756469-35757311	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr19:35754935-35759965	Hela-S3	cervix:	n/a	n/a
37	FOS	chr19:35756624-35756876	MCF10A-Er-Src	breast:	n/a	chr19:35756745-35756752 chr19:35756743-35756755 chr19:35756745-35756753 chr19:35756744-35756754 chr19:35756744-35756753
38	POLR2A	chr19:35754789-35759375	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr19:35754952-35759682	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:35754911-35759658	HCT-116	colon:	n/a	n/a
41	POLR2A	chr19:35755014-35759887	GM12878	blood:	n/a	n/a
42	JUND	chr19:35756710-35756910	HepG2	liver:	n/a	chr19:35756745-35756752 chr19:35756743-35756755 chr19:35756745-35756753 chr19:35756744-35756754 chr19:35756743-35756754 chr19:35756744-35756753
43	FOS	chr19:35756580-35756876	MCF10A-Er-Src	breast:	n/a	chr19:35756745-35756752 chr19:35756743-35756755 chr19:35756745-35756753 chr19:35756744-35756754 chr19:35756744-35756753
44	POLR2A	chr19:35756144-35756758	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:35755049-35759400	GM12892	blood:	n/a	n/a
46	POLR2A	chr19:35754821-35759383	K562	blood:	n/a	n/a
47	POLR2A	chr19:35755210-35759361	K562	blood:	n/a	n/a
48	POLR2A	chr19:35754934-35759575	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:35754205-35757009	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr19:35754955-35759937	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35653961..35659020-chr19:35755691..35760689,8	K562	blood:
2	chr19:35631425..35638367-chr19:35753629..35761294,12	MCF-7	breast:
3	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
4	chr19:35739836..35740364-chr19:35755920..35756767,2	HCT-116	colon:
5	chr19:35653961..35658211-chr19:35756444..35760028,4	K562	blood:
6	chr19:35756455..35758959-chr19:35940414..35943178,2	MCF-7	breast:
7	chr19:35631758..35633749-chr19:35755549..35757445,2	K562	blood:
8	chr19:35519941..35521623-chr19:35755963..35757596,2	MCF-7	breast:
9	chr19:35755034..35756836-chr19:35817382..35820028,2	K562	blood:

Variant related genes	Relation type
USF2	TF binding region
LSR	TF binding region
ENSG00000266964	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000126262	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000153902	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16970163	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291532	0.84[EUR][1000 genomes]
rs34259399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482324	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs542977	0.88[EUR][1000 genomes]
rs55850007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56116175	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs569596	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248140	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73029957	0.89[ASN][1000 genomes]
rs73029989	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73030000	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8100411	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:35744400-35757600	Strong transcription	Fetal Intestine Large	intestine
4	chr19:35744800-35757600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr19:35744800-35757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:35744800-35757800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr19:35744800-35758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:35745000-35757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr19:35746600-35757600	Strong transcription	Fetal Intestine Small	intestine
10	chr19:35746600-35757600	Weak transcription	Hela-S3	cervix
11	chr19:35748800-35757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:35749000-35757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:35749000-35758000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:35749400-35757600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:35752600-35758000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:35753200-35757400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:35753800-35757000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:35753800-35757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:35754200-35757400	Weak transcription	Fetal Brain Male	brain
20	chr19:35754600-35756800	Weak transcription	A549	lung
21	chr19:35754600-35757000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:35754600-35757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:35754800-35756800	Weak transcription	Brain Germinal Matrix	brain
24	chr19:35754800-35757000	Strong transcription	K562	blood
25	chr19:35754800-35757600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:35754800-35757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:35754800-35758200	Enhancers	Primary B cells from cord blood	blood
28	chr19:35755000-35756800	Enhancers	Brain Angular Gyrus	brain
29	chr19:35755000-35756800	Enhancers	Brain Substantia Nigra	brain
30	chr19:35755000-35757000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:35755000-35757200	Enhancers	Right Ventricle	heart
32	chr19:35755000-35757400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:35755000-35757400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr19:35755000-35757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:35755000-35757600	Enhancers	Adipose Nuclei	Adipose
36	chr19:35755000-35757600	Enhancers	Brain Cingulate Gyrus	brain
37	chr19:35755000-35757800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr19:35755000-35757800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr19:35755000-35758200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:35755200-35757000	Enhancers	Primary hematopoietic stem cells	blood
41	chr19:35755200-35757000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr19:35755200-35757400	Enhancers	Brain Anterior Caudate	brain
43	chr19:35755200-35757400	Strong transcription	HepG2	liver
44	chr19:35755200-35757400	Weak transcription	NHLF	lung
45	chr19:35755200-35757600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:35755200-35757800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:35755200-35758000	Enhancers	Spleen	Spleen
48	chr19:35755200-35758400	Enhancers	Fetal Heart	heart
49	chr19:35755400-35756800	Enhancers	Colon Smooth Muscle	Colon
50	chr19:35755400-35757400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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