Variant report

Variant	rs9676765
Chromosome Location	chr19:56647930-56647931
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	MAFK	chr19:56647629-56647934	K562	blood:	n/a	chr19:56647776-56647787
2	BACH1	chr19:56647645-56648184	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr19:56647749-56648044	HepG2	liver:	n/a	n/a
4	CTCF	chr19:56647920-56648070	HepG2	liver:	n/a	n/a
5	TAF1	chr19:56647770-56648143	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr19:56647604-56647970	HepG2	liver:	n/a	chr19:56647776-56647787
7	CTCF	chr19:56647920-56648070	HCPEpiC	choroid plexus:	n/a	n/a
8	RAD21	chr19:56647799-56648182	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr19:56647667-56647989	IMR90	lung:	n/a	chr19:56647776-56647787
10	MAFF	chr19:56647624-56647975	HepG2	liver:	n/a	chr19:56647773-56647791
11	FOXA2	chr19:56647670-56647989	HepG2	liver:	n/a	n/a
12	MAFK	chr19:56647612-56648184	H1-hESC	embryonic stem cell:	n/a	chr19:56647776-56647787
13	FOXA1	chr19:56647641-56648026	HepG2	liver:	n/a	n/a
14	MAFK	chr19:56647612-56647986	HepG2	liver:	n/a	chr19:56647776-56647787

No.	Distal block	Cell Line	Cell type
1	chr19:56645494..56648781-chr19:56650139..56653742,5	K562	blood:
2	chr19:56635952..56638231-chr19:56646331..56649019,3	MCF-7	breast:
3	chr19:56631213..56633451-chr19:56646728..56649320,2	K562	blood:

Variant related genes	Relation type
ZNF444	TF binding region
ENSG00000167685	Chromatin interaction
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11673628	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12981138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12983086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450439	0.85[ASN][1000 genomes]
rs2631625	0.82[ASN][1000 genomes]
rs2631627	0.86[ASN][1000 genomes]
rs2631628	0.86[ASN][1000 genomes]
rs2631631	0.85[ASN][1000 genomes]
rs2631637	0.82[ASN][1000 genomes]
rs2637092	0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2637094	0.83[ASN][1000 genomes]
rs2637097	0.84[ASN][1000 genomes]
rs2637114	0.84[ASN][1000 genomes]
rs2932757	0.84[ASN][1000 genomes]
rs35766803	0.80[EUR][1000 genomes]
rs473953	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs478402	0.82[ASN][1000 genomes]
rs4801294	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4801676	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs490345	0.86[ASN][1000 genomes]
rs497453	0.80[ASN][1000 genomes]
rs499083	1.00[CEU][hapmap]
rs504350	0.81[JPT][hapmap]
rs506547	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs506986	1.00[CEU][hapmap]
rs517021	0.84[ASN][1000 genomes]
rs524988	0.80[ASN][1000 genomes]
rs525827	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs527715	0.83[ASN][1000 genomes]
rs540900	0.86[JPT][hapmap]
rs546082	1.00[CEU][hapmap]
rs547945	0.86[JPT][hapmap]
rs562907	1.00[CEU][hapmap]
rs565879	0.81[ASN][1000 genomes]
rs572851	0.83[ASN][1000 genomes]
rs578990	0.85[JPT][hapmap]
rs578991	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs583330	0.83[ASN][1000 genomes]
rs588574	0.82[JPT][hapmap]
rs592827	0.82[ASN][1000 genomes]
rs599405	0.85[JPT][hapmap]
rs609736	0.86[JPT][hapmap]
rs619934	0.86[JPT][hapmap]
rs626821	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs629544	0.82[ASN][1000 genomes]
rs640654	0.83[ASN][1000 genomes]
rs643133	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs643174	0.81[ASN][1000 genomes]
rs659424	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs662308	0.86[ASN][1000 genomes]
rs662763	0.84[ASN][1000 genomes]
rs665082	0.86[ASN][1000 genomes]
rs665857	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs667438	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs669866	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs672824	1.00[CEU][hapmap]
rs677127	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs678540	0.86[ASN][1000 genomes]
rs684653	0.85[JPT][hapmap]
rs685117	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs8103672	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56638600-56651200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr19:56638800-56651800	Weak transcription	Spleen	Spleen
3	chr19:56640800-56649000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:56644000-56651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:56644000-56651200	Weak transcription	Lung	lung
6	chr19:56644000-56651200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:56644200-56649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:56644200-56651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:56644200-56651200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:56644200-56651200	Weak transcription	Brain Anterior Caudate	brain
11	chr19:56644200-56651200	Weak transcription	Fetal Kidney	kidney
12	chr19:56644200-56651400	Weak transcription	Right Atrium	heart
13	chr19:56644400-56651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:56644800-56649000	Weak transcription	Adipose Nuclei	Adipose
15	chr19:56645000-56651200	Weak transcription	Aorta	Aorta
16	chr19:56645400-56651200	Weak transcription	NH-A	brain
17	chr19:56645400-56651800	Enhancers	Pancreas	Pancrea
18	chr19:56645800-56648800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:56645800-56648800	Weak transcription	A549	lung
20	chr19:56645800-56649000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:56645800-56651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:56645800-56651200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:56645800-56651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:56645800-56651200	Weak transcription	HSMM	muscle
25	chr19:56645800-56651400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:56645800-56651600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:56646000-56648800	Weak transcription	Fetal Lung	lung
28	chr19:56646000-56651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:56646000-56651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:56646000-56651200	Weak transcription	Fetal Brain Female	brain
31	chr19:56646000-56651200	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:56646000-56651200	Weak transcription	HSMMtube	muscle
33	chr19:56646000-56651200	Weak transcription	NHDF-Ad	bronchial
34	chr19:56646000-56651200	Weak transcription	Osteobl	bone
35	chr19:56646000-56651400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:56646000-56651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:56646000-56651600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:56646200-56648800	Weak transcription	Hela-S3	cervix
39	chr19:56646200-56650400	Weak transcription	Primary B cells from cord blood	blood
40	chr19:56646200-56650800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:56646200-56651200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:56646200-56651200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:56646200-56651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:56646200-56651200	Weak transcription	Fetal Stomach	stomach
45	chr19:56646200-56651200	Weak transcription	GM12878-XiMat	blood
46	chr19:56646600-56649400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:56646800-56648200	Enhancers	Gastric	stomach
48	chr19:56646800-56651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:56646800-56651200	Weak transcription	HMEC	breast
50	chr19:56646800-56651200	Weak transcription	NHEK	skin

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