Variant report

Variant	rs557334311
Chromosome Location	chr19:37709975-37709976
allele	A/C
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	STAT3	chr19:37709936-37710042	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr19:37708650-37710368	K562	blood:	n/a	chr19:37710213-37710224 chr19:37709381-37709392
4	HCFC1	chr19:37708147-37709996	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:37709873-37710128	K562	blood:	n/a	n/a
6	WRNIP1	chr19:37708554-37710005	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:37709843-37710043	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:37708454-37710010	GM12878	blood:	n/a	n/a
9	MXI1	chr19:37708413-37710084	IMR90	lung:	n/a	n/a
10	STAT5A	chr19:37709377-37710200	K562	blood:	n/a	chr19:37709384-37709392
11	POLR2A	chr19:37708516-37709998	HepG2	liver:	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
ENSG00000196967	Chromatin interaction
ENSG00000245680	Chromatin interaction
ENSG00000267360	Chromatin interaction
ENSG00000197863	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	chr19:37708000-37710200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:37708000-37710200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:37708000-37710400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37708200-37710000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:37708200-37710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:37708200-37710000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:37708200-37710000	Active TSS	Fetal Intestine Small	intestine
8	chr19:37708200-37710200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr19:37708200-37710200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:37708200-37710200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:37708200-37710200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr19:37708200-37710200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:37708200-37710200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:37708200-37710200	Active TSS	Fetal Intestine Large	intestine
15	chr19:37708200-37710200	Active TSS	Fetal Kidney	kidney
16	chr19:37708200-37710400	Active TSS	HSMM	muscle
17	chr19:37708400-37710000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:37708400-37710000	Active TSS	Ovary	ovary
19	chr19:37708400-37710000	Active TSS	Psoas Muscle	Psoas
20	chr19:37708400-37710000	Active TSS	Stomach Mucosa	stomach
21	chr19:37708400-37710200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:37708400-37710200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:37708400-37710200	Active TSS	Colonic Mucosa	Colon
24	chr19:37708400-37710200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr19:37708400-37710200	Active TSS	HSMMtube	muscle
26	chr19:37708400-37710200	Active TSS	NHLF	lung
27	chr19:37708600-37710000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:37708600-37710200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:37708600-37710200	Active TSS	Osteobl	bone
30	chr19:37708800-37710600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr19:37709000-37710400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:37709200-37710400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:37709200-37710600	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr19:37709400-37710000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr19:37709400-37710000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr19:37709400-37710000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:37709400-37710000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:37709400-37710000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr19:37709400-37710000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr19:37709400-37710000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr19:37709400-37710000	Flanking Active TSS	Fetal Brain Male	brain
42	chr19:37709400-37710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:37709400-37710200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:37709400-37710200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:37709400-37710200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr19:37709400-37710200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr19:37709400-37710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:37709400-37710200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr19:37709400-37710200	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr19:37709400-37710200	Flanking Active TSS	Brain Germinal Matrix	brain

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