Variant report

Variant	rs3853383
Chromosome Location	chr19:20844531-20844532
allele	A/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	chr19:20843940-20844588	GM18505	blood:	n/a	n/a
2	ELF1	chr19:20844066-20844626	SK-N-SH	brain:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
3	TAF1	chr19:20844200-20844588	PFSK-1	brain:	n/a	n/a
4	SRF	chr19:20844484-20844645	GM12878	blood:	n/a	n/a
5	SP1	chr19:20844207-20844691	GM12878	blood:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
6	POLR2A	chr19:20844115-20844539	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:20844158-20844539	HepG2	liver:	n/a	n/a
8	SP1	chr19:20844290-20844557	K562	blood:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
9	POLR2A	chr19:20843869-20844789	H1-neurons	neurons:	n/a	n/a
10	GABPA	chr19:20844166-20844580	K562	blood:	n/a	chr19:20844477-20844486
11	POLR2A	chr19:20844015-20844639	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:20844099-20844558	K562	blood:	n/a	n/a
13	SP2	chr19:20844337-20844551	K562	blood:	n/a	chr19:20844475-20844490
14	POLR2A	chr19:20844191-20844580	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:20843867-20844653	PANC-1	pancreas:	n/a	n/a
16	SP2	chr19:20844358-20844604	H1-hESC	embryonic stem cell:	n/a	chr19:20844475-20844490
17	PBX3	chr19:20844103-20844705	SK-N-SH	brain:	n/a	chr19:20844495-20844504 chr19:20844538-20844547
18	SP1	chr19:20844148-20844714	HepG2	liver:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
19	POLR2A	chr19:20843896-20844542	GM12891	blood:	n/a	n/a
20	ELF1	chr19:20844120-20844673	HepG2	liver:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
21	POLR2A	chr19:20843052-20844704	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr19:20843976-20844598	H1-neurons	neurons:	n/a	n/a
23	NFYA	chr19:20844341-20844541	GM12878	blood:	n/a	chr19:20844426-20844439 chr19:20844456-20844466 chr19:20844425-20844439 chr19:20844424-20844439 chr19:20844454-20844468 chr19:20844455-20844468 chr19:20844427-20844437
24	TBL1XR1	chr19:20844327-20844550	K562	blood:	n/a	n/a
25	POLR2A	chr19:20844076-20844649	HepG2	liver:	n/a	n/a
26	PBX3	chr19:20844351-20844632	GM12878	blood:	n/a	chr19:20844495-20844504 chr19:20844538-20844547
27	SRF	chr19:20844427-20844654	GM12878	blood:	n/a	n/a
28	ELF1	chr19:20844123-20844654	K562	blood:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
29	REST	chr19:20843446-20844762	H1-neurons	neurons:	n/a	chr19:20844139-20844159
30	IRF3	chr19:20844422-20844566	GM12878	blood:	n/a	chr19:20844473-20844487
31	POLR2A	chr19:20844055-20844531	GM12891	blood:	n/a	n/a
32	RAD21	chr19:20844393-20844569	HepG2	liver:	n/a	n/a
33	IRF1	chr19:20844270-20844646	K562	blood:	n/a	chr19:20844473-20844487
34	ELF1	chr19:20843878-20844596	GM12878	blood:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
35	POLR2A	chr19:20844188-20844582	HUVEC	blood vessel:	n/a	n/a
36	MYC	chr19:20844502-20844559	HUVEC	blood vessel:	n/a	n/a
37	MXI1	chr19:20844298-20844541	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:20843993-20844611	HUVEC	blood vessel:	n/a	n/a
39	RFX5	chr19:20843878-20844837	SK-N-SH	brain:	n/a	chr19:20844427-20844436 chr19:20844456-20844465
40	POLR2A	chr19:20843999-20844699	K562	blood:	n/a	n/a
41	POLR2A	chr19:20843735-20844546	K562	blood:	n/a	n/a
42	TBP	chr19:20844178-20844571	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:20843961-20844706	HUVEC	blood vessel:	n/a	n/a
44	SRF	chr19:20844451-20844638	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:20844040-20844590	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr19:20844069-20844531	GM19099	blood:	n/a	n/a
47	POLR2A	chr19:20844072-20844620	HUVEC	blood vessel:	n/a	n/a
48	TAF1	chr19:20844170-20844563	GM12878	blood:	n/a	n/a
49	PML	chr19:20844106-20844573	K562	blood:	n/a	n/a
50	MAZ	chr19:20844367-20844669	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNF626	TF binding region
ENSG00000269110	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs274797	0.91[EUR][1000 genomes]
rs3866686	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808260	0.93[ASN][1000 genomes]
rs659147	0.91[EUR][1000 genomes]
rs672887	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7259377	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
2	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv978786	chr19:20818886-20884983	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911407	chr19:20818886-20885811	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911408	chr19:20818886-20885811	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1065039	chr19:20818886-20977326	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2751781	chr19:20818886-20985425	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv578921	chr19:20818886-20985425	ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458510	chr19:20818886-20987550	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578910	chr19:20818886-20987550	Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv578917	chr19:20818886-20989873	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv578918	chr19:20818886-21008212	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv3447275	chr19:20818886-21030779	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
19	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20841000-20844600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
2	chr19:20842200-20844600	Active TSS	Colonic Mucosa	Colon
3	chr19:20842400-20844600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:20842400-20844600	Active TSS	K562	blood
5	chr19:20842400-20844800	Active TSS	Fetal Kidney	kidney
6	chr19:20842600-20844800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:20842600-20844800	Active TSS	Primary T cells from cord blood	blood
8	chr19:20842800-20844600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:20842800-20844600	Active TSS	Duodenum Mucosa	Duodenum
10	chr19:20842800-20844600	Active TSS	Rectal Smooth Muscle	rectum
11	chr19:20842800-20844600	Active TSS	HSMMtube	muscle
12	chr19:20842800-20844600	Active TSS	Osteobl	bone
13	chr19:20842800-20845200	Active TSS	HepG2	liver
14	chr19:20843000-20844600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:20843000-20844600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:20843000-20844600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:20843000-20844600	Active TSS	Placenta	Placenta
18	chr19:20843000-20844600	Active TSS	Ovary	ovary
19	chr19:20843000-20844600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:20843000-20844600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:20843000-20844600	Active TSS	NH-A	brain
22	chr19:20843000-20844800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:20843200-20844600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr19:20843200-20844600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:20843200-20844600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:20843200-20844600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:20843200-20844600	Active TSS	Colon Smooth Muscle	Colon
28	chr19:20843200-20844600	Active TSS	Fetal Brain Female	brain
29	chr19:20843200-20844600	Active TSS	Stomach Smooth Muscle	stomach
30	chr19:20843200-20844600	Active TSS	HMEC	breast
31	chr19:20843200-20844600	Active TSS	HSMM	muscle
32	chr19:20843200-20844600	Active TSS	NHDF-Ad	bronchial
33	chr19:20843200-20844600	Active TSS	NHLF	lung
34	chr19:20843200-20844800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr19:20843400-20844600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:20843400-20844600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:20843400-20844600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:20843400-20844600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:20843400-20844600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:20843400-20844600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr19:20843400-20844600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr19:20843400-20844600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:20843400-20844600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:20843400-20844600	Active TSS	Fetal Thymus	thymus
45	chr19:20843400-20844600	Active TSS	Right Ventricle	heart
46	chr19:20843400-20844600	Active TSS	NHEK	skin
47	chr19:20843400-20844800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:20843400-20844800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:20843400-20844800	Active TSS	Fetal Intestine Large	intestine
50	chr19:20843600-20844600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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