Variant report

Variant	rs150926517
Chromosome Location	chr19:37709781-37709782
allele	A/G
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	STAT5A	chr19:37708701-37710146	GM12878	blood:	n/a	chr19:37709039-37709062 chr19:37709384-37709392 chr19:37708701-37708708
2	RELA	chr19:37708529-37709834	GM12891	blood:	n/a	n/a
3	MXI1	chr19:37708668-37709802	K562	blood:	n/a	n/a
4	CEBPB	chr19:37708650-37710368	K562	blood:	n/a	chr19:37710213-37710224 chr19:37709381-37709392
5	GABPA	chr19:37708311-37709832	SK-N-SH	brain:	n/a	n/a
6	SMARCC1	chr19:37708526-37709809	Hela-S3	cervix:	n/a	chr19:37708762-37708771
7	POLR2A	chr19:37708463-37709826	K562	blood:	n/a	n/a
8	CTCF	chr19:37709680-37709830	BJ	skin:	n/a	n/a
9	KAP1	chr19:37708472-37709834	HEK293	kidney:	n/a	n/a
10	POLR2A	chr19:37708444-37709866	GM12891	blood:	n/a	n/a
11	BCL3	chr19:37708489-37709927	A549	lung:	n/a	n/a
12	HCFC1	chr19:37708147-37709996	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:37708273-37709792	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:37708413-37709839	GM12891	blood:	n/a	n/a
15	CEBPB	chr19:37708837-37709804	IMR90	lung:	n/a	chr19:37709381-37709392
16	MAFK	chr19:37708371-37709851	K562	blood:	n/a	n/a
17	POLR2A	chr19:37708347-37709883	GM12878	blood:	n/a	n/a
18	MXI1	chr19:37708322-37709832	GM12878	blood:	n/a	n/a
19	WRNIP1	chr19:37708554-37710005	GM12878	blood:	n/a	n/a
20	TBP	chr19:37708447-37709939	K562	blood:	n/a	n/a
21	MAZ	chr19:37708312-37709886	K562	blood:	n/a	n/a
22	RELA	chr19:37708540-37709849	GM18951	blood:	n/a	n/a
23	CTCF	chr19:37709660-37709810	HBMEC	blood vessel:	n/a	n/a
24	SIX5	chr19:37708182-37709871	A549	lung:	n/a	chr19:37708760-37708774 chr19:37708764-37708773 chr19:37708762-37708771 chr19:37709797-37709806
25	SMC3	chr19:37708494-37709810	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:37708454-37710010	GM12878	blood:	n/a	n/a
27	BHLHE40	chr19:37708320-37709840	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:37708434-37709795	GM12878	blood:	n/a	n/a
29	CTCF	chr19:37709740-37709890	SAEC	small airway:	n/a	n/a
30	POLR2A	chr19:37708400-37709803	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr19:37708350-37709793	A549	lung:	n/a	n/a
32	CTCF	chr19:37709680-37709830	NHDF-neo	bronchial:	n/a	n/a
33	RCOR1	chr19:37708352-37709857	K562	blood:	n/a	n/a
34	RELA	chr19:37708433-37709810	GM18505	blood:	n/a	n/a
35	MAX	chr19:37708351-37709916	A549	lung:	n/a	n/a
36	BHLHE40	chr19:37708667-37709801	K562	blood:	n/a	n/a
37	ZNF384	chr19:37708569-37709807	K562	blood:	n/a	n/a
38	MAX	chr19:37708554-37709913	A549	lung:	n/a	n/a
39	MAX	chr19:37708394-37709849	GM12878	blood:	n/a	n/a
40	ETS1	chr19:37708409-37709816	A549	lung:	n/a	chr19:37709122-37709133 chr19:37708700-37708711 chr19:37708698-37708711 chr19:37708760-37708773 chr19:37708761-37708774 chr19:37708742-37708756 chr19:37708699-37708713
41	MXI1	chr19:37708413-37710084	IMR90	lung:	n/a	n/a
42	EP300	chr19:37708551-37709810	GM12878	blood:	n/a	n/a
43	STAT5A	chr19:37709377-37710200	K562	blood:	n/a	chr19:37709384-37709392
44	POLR2A	chr19:37708467-37709848	GM12878	blood:	n/a	n/a
45	RELA	chr19:37708590-37709840	GM19193	blood:	n/a	n/a
46	POLR2A	chr19:37708516-37709998	HepG2	liver:	n/a	n/a
47	TCF12	chr19:37708267-37709821	A549	lung:	n/a	n/a

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	chr19:37699969..37703002-chr19:37707384..37710417,4	MCF-7	breast:
5	chr19:37709557..37710298-chr4:177325105..177325952,2	MCF-7	breast:
6	chr19:37696561..37699381-chr19:37708371..37710219,3	MCF-7	breast:
7	chr19:37662710..37665074-chr19:37707652..37710063,2	K562	blood:
8	chr19:37700501..37704644-chr19:37706690..37710773,7	K562	blood:

Variant related genes	Relation type
ZNF585B	TF binding region
ENSG00000267360	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000196967	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37708000-37709800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:37708000-37709800	Active TSS	Right Atrium	heart
3	chr19:37708000-37709800	Active TSS	HMEC	breast
4	chr19:37708000-37710200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:37708000-37710200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:37708000-37710400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:37708200-37709800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37708200-37709800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:37708200-37709800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:37708200-37709800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:37708200-37709800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:37708200-37709800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:37708200-37709800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:37708200-37709800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:37708200-37709800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37708200-37709800	Active TSS	Fetal Stomach	stomach
17	chr19:37708200-37709800	Active TSS	GM12878-XiMat	blood
18	chr19:37708200-37709800	Active TSS	Hela-S3	cervix
19	chr19:37708200-37709800	Active TSS	K562	blood
20	chr19:37708200-37709800	Active TSS	NHDF-Ad	bronchial
21	chr19:37708200-37710000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:37708200-37710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:37708200-37710000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:37708200-37710000	Active TSS	Fetal Intestine Small	intestine
25	chr19:37708200-37710200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:37708200-37710200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:37708200-37710200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:37708200-37710200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr19:37708200-37710200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:37708200-37710200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:37708200-37710200	Active TSS	Fetal Intestine Large	intestine
32	chr19:37708200-37710200	Active TSS	Fetal Kidney	kidney
33	chr19:37708200-37710400	Active TSS	HSMM	muscle
34	chr19:37708400-37709800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:37708400-37709800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:37708400-37709800	Active TSS	Aorta	Aorta
37	chr19:37708400-37709800	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:37708400-37709800	Active TSS	Lung	lung
39	chr19:37708400-37710000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr19:37708400-37710000	Active TSS	Ovary	ovary
41	chr19:37708400-37710000	Active TSS	Psoas Muscle	Psoas
42	chr19:37708400-37710000	Active TSS	Stomach Mucosa	stomach
43	chr19:37708400-37710200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:37708400-37710200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:37708400-37710200	Active TSS	Colonic Mucosa	Colon
46	chr19:37708400-37710200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr19:37708400-37710200	Active TSS	HSMMtube	muscle
48	chr19:37708400-37710200	Active TSS	NHLF	lung
49	chr19:37708600-37709800	Active TSS	Gastric	stomach
50	chr19:37708600-37710000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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