Variant report

Variant	rs10420754
Chromosome Location	chr19:37959372-37959373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37958898-37959417	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37958940..37961916-chr19:38146231..38147953,2	K562	blood:
2	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:
3	chr19:37957663..37960695-chr19:38143642..38147199,3	MCF-7	breast:
4	chr19:37955552..37960531-chr19:37996583..37998774,4	MCF-7	breast:
5	chr19:37945213..37949636-chr19:37955245..37960324,5	K562	blood:

No data

Variant related genes	Relation type
ZNF570	TF binding region
ZNF569	TF binding region
ENSG00000188227	Chromatin interaction
ENSG00000196437	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1015848	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1015849	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1035479	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403582	0.93[EUR][1000 genomes]
rs10403613	0.81[EUR][1000 genomes]
rs10404920	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs10404945	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs10405064	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs10405325	0.86[EUR][1000 genomes]
rs10405407	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10406177	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10407084	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes]
rs10409204	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs10411574	0.91[EUR][1000 genomes]
rs10412043	0.81[EUR][1000 genomes]
rs10413602	0.88[EUR][1000 genomes]
rs10414904	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10415024	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10415937	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10417503	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs10417844	0.93[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10420430	0.88[EUR][1000 genomes]
rs10420722	0.94[EUR][1000 genomes]
rs10422074	0.88[EUR][1000 genomes]
rs10422423	0.81[EUR][1000 genomes]
rs10422667	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10422967	0.81[EUR][1000 genomes]
rs10424574	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs10426618	0.95[EUR][1000 genomes]
rs11083426	0.86[EUR][1000 genomes]
rs11671972	0.89[ASN][1000 genomes]
rs12104380	0.81[EUR][1000 genomes]
rs12709813	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12972252	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12979470	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12981532	0.88[EUR][1000 genomes]
rs13343471	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13343485	0.82[EUR][1000 genomes]
rs13343502	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13345116	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1373991	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1382357	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559229	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1823061	0.85[CEU][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap]
rs2045908	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081096	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112920	0.85[EUR][1000 genomes]
rs2112922	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2112923	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126977	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279148	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs2279149	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs2291004	0.93[CEU][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs2303131	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28373708	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28402338	0.81[EUR][1000 genomes]
rs28538699	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28605784	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28623164	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2891699	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35085437	0.81[EUR][1000 genomes]
rs35540940	0.90[EUR][1000 genomes]
rs35777021	0.93[EUR][1000 genomes]
rs3745765	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3760825	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803895	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4417644	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4452075	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4801759	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4801803	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802766	0.95[EUR][1000 genomes]
rs4802889	0.92[EUR][1000 genomes]
rs4803195	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803210	0.82[CEU][hapmap]
rs4803229	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803347	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803460	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803539	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4969487	0.81[EUR][1000 genomes]
rs59224125	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110394	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6508711	0.82[EUR][1000 genomes]
rs6508719	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6508732	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508733	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs713256	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs7246993	0.88[EUR][1000 genomes]
rs7247259	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248733	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252099	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7252325	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252346	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253091	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253114	0.93[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7255407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255785	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255952	0.93[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes]
rs7255972	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs7255996	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257672	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs7258692	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs7259968	0.82[EUR][1000 genomes]
rs73631095	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7408563	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs8106839	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109038	0.93[CEU][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs8109632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111782	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs8112610	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304566	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs9676739	0.93[EUR][1000 genomes]
rs9676967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917081	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr19:37956800-37960800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:37956800-37961200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:37956800-37961200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:37956800-37961400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:37956800-37961400	Active TSS	NHLF	lung
6	chr19:37956800-37961600	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:37957000-37960600	Active TSS	Brain Angular Gyrus	brain
8	chr19:37957000-37960600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr19:37957000-37961000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:37957000-37961000	Active TSS	Fetal Intestine Large	intestine
11	chr19:37957000-37961000	Active TSS	Right Ventricle	heart
12	chr19:37957000-37961200	Active TSS	Right Atrium	heart
13	chr19:37957000-37961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:37957000-37961400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:37957000-37961400	Active TSS	NH-A	brain
16	chr19:37957000-37961400	Active TSS	NHDF-Ad	bronchial
17	chr19:37957200-37959800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:37957200-37960600	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:37957200-37960800	Active TSS	Brain Anterior Caudate	brain
20	chr19:37957200-37960800	Active TSS	Fetal Brain Female	brain
21	chr19:37957200-37960800	Active TSS	NHEK	skin
22	chr19:37957200-37960800	Active TSS	Osteobl	bone
23	chr19:37957200-37961000	Active TSS	HSMM	muscle
24	chr19:37957200-37961200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:37957200-37961200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:37957200-37961200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:37957200-37961400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:37957200-37961400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:37957400-37959400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr19:37957400-37960600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:37957400-37960800	Active TSS	HSMMtube	muscle
32	chr19:37957400-37961000	Active TSS	Fetal Stomach	stomach
33	chr19:37957400-37961200	Active TSS	Psoas Muscle	Psoas
34	chr19:37957600-37961000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:37958200-37961000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:37958400-37959600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr19:37958400-37959600	ZNF genes & repeats	A549	lung
38	chr19:37958400-37959800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:37958400-37959800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:37958400-37959800	Flanking Active TSS	Dnd41	blood
41	chr19:37958400-37960000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr19:37958400-37960000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:37958600-37959400	Weak transcription	Aorta	Aorta
44	chr19:37958600-37959400	Flanking Active TSS	Placenta	Placenta
45	chr19:37958600-37959600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:37958600-37959600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:37958600-37959600	Enhancers	Primary B cells from peripheral blood	blood
48	chr19:37958600-37959600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:37958600-37959600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr19:37958800-37959400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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