Variant report

Variant	rs576995186
Chromosome Location	chr19:37709211-37709212
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	MAX	chr19:37708443-37709677	A549	lung:	n/a	n/a
2	SPI1	chr19:37708351-37709467	HL-60	blood:	n/a	chr19:37709119-37709132 chr19:37709118-37709131
3	YY1	chr19:37708606-37709345	K562	blood:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
4	SIN3AK20	chr19:37708837-37709327	K562	blood:	n/a	n/a
5	TAF1	chr19:37708440-37709385	GM12878	blood:	n/a	n/a
6	EGR1	chr19:37708958-37709460	K562	blood:	n/a	chr19:37709281-37709294 chr19:37709269-37709284 chr19:37709046-37709070
7	SPI1	chr19:37709006-37709246	K562	blood:	n/a	chr19:37709119-37709132 chr19:37709118-37709131
8	TAF1	chr19:37708553-37709541	ECC-1	luminal epithelium:	n/a	n/a
9	STAT5A	chr19:37708701-37710146	GM12878	blood:	n/a	chr19:37709039-37709062 chr19:37709384-37709392 chr19:37708701-37708708
10	RELA	chr19:37708419-37709634	GM10847	blood:	n/a	n/a
11	RCOR1	chr19:37708512-37709427	GM12878	blood:	n/a	n/a
12	YY1	chr19:37708464-37709470	SK-N-SH_RA	brain:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
13	TAF1	chr19:37708509-37709261	K562	blood:	n/a	n/a
14	USF1	chr19:37708620-37709428	A549	lung:	n/a	n/a
15	RELA	chr19:37708529-37709834	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:37708429-37709594	PANC-1	pancreas:	n/a	n/a
17	YY1	chr19:37708852-37709250	HCT-116	colon:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
18	POLR2A	chr19:37708378-37709448	SK-N-MC	brain:	n/a	n/a
19	CUX1	chr19:37708505-37709595	GM12878	blood:	n/a	n/a
20	TCF3	chr19:37708563-37709255	GM12878	blood:	n/a	n/a
21	REST	chr19:37708389-37709728	H1-neurons	neurons:	n/a	chr19:37708652-37708672 chr19:37708658-37708672
22	MXI1	chr19:37708668-37709802	K562	blood:	n/a	n/a
23	TCF7L2	chr19:37708556-37709462	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr19:37708492-37709334	H1-hESC	embryonic stem cell:	n/a	n/a
25	SPI1	chr19:37708559-37709286	GM12878	blood:	n/a	chr19:37709119-37709132 chr19:37709118-37709131
26	FOXA2	chr19:37708529-37709396	A549	lung:	n/a	n/a
27	MYC	chr19:37708534-37709509	K562	blood:	n/a	n/a
28	CHD2	chr19:37708627-37709276	HepG2	liver:	n/a	n/a
29	MAX	chr19:37708491-37709672	NB4	blood:	n/a	n/a
30	TAF1	chr19:37708513-37709292	GM12891	blood:	n/a	n/a
31	CEBPB	chr19:37708650-37710368	K562	blood:	n/a	chr19:37710213-37710224 chr19:37709381-37709392
32	REST	chr19:37708476-37709593	A549	lung:	n/a	chr19:37708652-37708672 chr19:37708658-37708672
33	POLR2A	chr19:37708498-37709440	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr19:37708401-37709559	HUVEC	blood vessel:	n/a	n/a
35	ARID3A	chr19:37708620-37709694	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:37708443-37709551	K562	blood:	n/a	n/a
37	ZMIZ1	chr19:37708575-37709521	K562	blood:	n/a	n/a
38	TAF1	chr19:37708511-37709374	GM12891	blood:	n/a	n/a
39	MAFK	chr19:37708773-37709225	HepG2	liver:	n/a	n/a
40	YY1	chr19:37708668-37709249	K562	blood:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
41	GABPA	chr19:37708311-37709832	SK-N-SH	brain:	n/a	n/a
42	TBL1XR1	chr19:37708570-37709661	K562	blood:	n/a	n/a
43	YY1	chr19:37708498-37709363	HepG2	liver:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
44	RELA	chr19:37708444-37709601	GM15510	blood:	n/a	n/a
45	MAX	chr19:37708886-37709424	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr19:37708573-37709241	K562	blood:	n/a	chr19:37709013-37709032 chr19:37709015-37709037
47	SMARCC1	chr19:37708526-37709809	Hela-S3	cervix:	n/a	chr19:37708762-37708771
48	POLR2A	chr19:37708463-37709826	K562	blood:	n/a	n/a
49	MAX	chr19:37708563-37709505	SK-N-SH	brain:	n/a	n/a
50	FOS	chr19:37709053-37709330	MCF10A-Er-Src	breast:	n/a	chr19:37709285-37709294

No.	Distal block	Cell Line	Cell type
1	chr19:37328417..37330040-chr19:37708183..37710302,2	MCF-7	breast:
2	chr19:37662285..37665074-chr19:37707652..37711059,3	K562	blood:
3	chr19:37699250..37701731-chr19:37707688..37710566,5	MCF-7	breast:
4	chr19:37567228..37570692-chr19:37707204..37709250,4	K562	blood:
5	chr19:37699969..37703002-chr19:37707384..37710417,4	MCF-7	breast:
6	chr19:37696561..37699381-chr19:37708371..37710219,3	MCF-7	breast:
7	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:
8	chr19:37662710..37665074-chr19:37707652..37710063,2	K562	blood:
9	chr10:104192093..104192656-chr19:37708759..37709508,2	NB4	blood:
10	chr19:37700501..37704644-chr19:37706690..37710773,7	K562	blood:
11	chr19:37567784..37569957-chr19:37706405..37709557,3	MCF-7	breast:

Variant related genes	Relation type
ZNF585B	TF binding region
ENSG00000107874	Chromatin interaction
ENSG00000198453	Chromatin interaction
ENSG00000267345	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000197050	Chromatin interaction
ENSG00000196967	Chromatin interaction
ENSG00000267360	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37708000-37709400	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:37708000-37709600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:37708000-37709800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:37708000-37709800	Active TSS	Right Atrium	heart
5	chr19:37708000-37709800	Active TSS	HMEC	breast
6	chr19:37708000-37710200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:37708000-37710200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:37708000-37710400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37708200-37709400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:37708200-37709400	Active TSS	Primary hematopoietic stem cells	blood
11	chr19:37708200-37709400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr19:37708200-37709400	Active TSS	Brain Angular Gyrus	brain
13	chr19:37708200-37709400	Active TSS	Brain Substantia Nigra	brain
14	chr19:37708200-37709400	Active TSS	Fetal Brain Female	brain
15	chr19:37708200-37709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:37708200-37709600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:37708200-37709600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:37708200-37709600	Active TSS	Brain Anterior Caudate	brain
19	chr19:37708200-37709600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:37708200-37709600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:37708200-37709600	Active TSS	Fetal Thymus	thymus
22	chr19:37708200-37709600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr19:37708200-37709600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr19:37708200-37709600	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:37708200-37709600	Active TSS	Thymus	Thymus
26	chr19:37708200-37709600	Active TSS	A549	lung
27	chr19:37708200-37709600	Bivalent/Poised TSS	HepG2	liver
28	chr19:37708200-37709600	Active TSS	HUVEC	blood vessel
29	chr19:37708200-37709600	Active TSS	NH-A	brain
30	chr19:37708200-37709800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:37708200-37709800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:37708200-37709800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr19:37708200-37709800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:37708200-37709800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:37708200-37709800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:37708200-37709800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:37708200-37709800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:37708200-37709800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:37708200-37709800	Active TSS	Fetal Stomach	stomach
40	chr19:37708200-37709800	Active TSS	GM12878-XiMat	blood
41	chr19:37708200-37709800	Active TSS	Hela-S3	cervix
42	chr19:37708200-37709800	Active TSS	K562	blood
43	chr19:37708200-37709800	Active TSS	NHDF-Ad	bronchial
44	chr19:37708200-37710000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr19:37708200-37710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:37708200-37710000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:37708200-37710000	Active TSS	Fetal Intestine Small	intestine
48	chr19:37708200-37710200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:37708200-37710200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:37708200-37710200	Active TSS	HUES64 Cell Line	embryonic stem cell

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