Variant report

Variant	rs397133
Chromosome Location	chr19:44487889-44487890
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	MXI1	chr19:44487660-44489009	GM12878	blood:	n/a	n/a
2	TBP	chr19:44487854-44488809	GM12878	blood:	n/a	n/a
3	NFIC	chr19:44487881-44488663	ECC-1	luminal epithelium:	n/a	n/a
4	GABPA	chr19:44487808-44488816	MCF-7	breast:	n/a	chr19:44488607-44488616
5	BHLHE40	chr19:44487743-44488977	GM12878	blood:	n/a	n/a
6	SREBP1	chr19:44487490-44489131	GM12878	blood:	n/a	n/a
7	NRF1	chr19:44487867-44488366	GM12878	blood:	n/a	n/a
8	ELK1	chr19:44487785-44488553	GM12878	blood:	n/a	chr19:44488345-44488354 chr19:44488345-44488354
9	ZBTB33	chr19:44487881-44488950	A549	lung:	n/a	chr19:44488713-44488728
10	EBF1	chr19:44487787-44488468	GM12878	blood:	n/a	n/a
11	ZBTB33	chr19:44487878-44488998	SK-N-SH	brain:	n/a	chr19:44488713-44488728
12	SIX5	chr19:44487794-44488700	A549	lung:	n/a	n/a
13	RCOR1	chr19:44487746-44488609	IMR90	lung:	n/a	n/a
14	NFIC	chr19:44487864-44488664	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr19:44487841-44488806	A549	lung:	n/a	chr19:44488658-44488665
16	NRF1	chr19:44487589-44488560	SK-N-SH	brain:	n/a	n/a
17	SIX5	chr19:44487842-44488586	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr19:44487856-44488668	H1-neurons	neurons:	n/a	chr19:44488049-44488062
19	GABPA	chr19:44487883-44488817	A549	lung:	n/a	chr19:44488607-44488616
20	HCFC1	chr19:44487366-44489031	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44486769..44491037-chr19:44505585..44508395,4	MCF-7	breast:
2	chr19:44487777..44490285-chr19:44555817..44558004,3	MCF-7	breast:
3	chr19:44487658..44489792-chr19:44505545..44508358,4	MCF-7	breast:

Variant related genes	Relation type
ZNF155	TF binding region
ENSG00000159882	Chromatin interaction
ENSG00000266921	Chromatin interaction
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10451441	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs16976937	1.00[CEU][hapmap]
rs369958	1.00[CEU][hapmap]
rs385016	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs405676	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs439676	1.00[CEU][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44485200-44488200	Weak transcription	Aorta	Aorta
2	chr19:44487600-44488000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:44487600-44488000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:44487600-44488000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr19:44487600-44488000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:44487600-44488000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:44487600-44488000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:44487600-44488000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:44487600-44488000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:44487600-44488000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:44487600-44488000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:44487600-44488000	Enhancers	Fetal Thymus	thymus
13	chr19:44487600-44488000	Enhancers	Right Ventricle	heart
14	chr19:44487600-44488000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr19:44487600-44488000	Flanking Active TSS	A549	lung
16	chr19:44487600-44488000	Flanking Active TSS	GM12878-XiMat	blood
17	chr19:44487600-44488200	Flanking Active TSS	Dnd41	blood
18	chr19:44487600-44488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44487600-44488800	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr19:44487600-44488800	Active TSS	Brain Anterior Caudate	brain
21	chr19:44487600-44488800	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:44487600-44489200	Active TSS	Brain Cingulate Gyrus	brain
23	chr19:44487600-44489200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:44487600-44489200	Active TSS	Brain Substantia Nigra	brain
25	chr19:44487600-44489200	Active TSS	Psoas Muscle	Psoas
26	chr19:44487600-44489200	Active TSS	Hela-S3	cervix
27	chr19:44487600-44489400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:44487600-44489400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:44487600-44489400	Active TSS	Duodenum Mucosa	Duodenum
30	chr19:44487600-44489400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:44487600-44489400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:44487600-44489600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44487600-44489600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:44487600-44489600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:44487600-44489600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:44487600-44489600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:44487600-44489600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:44487800-44488000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:44487800-44488000	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr19:44487800-44488000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:44487800-44488000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:44487800-44488000	Flanking Active TSS	Liver	Liver
43	chr19:44487800-44488000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:44487800-44488000	Enhancers	Fetal Stomach	stomach
45	chr19:44487800-44488000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr19:44487800-44488000	Enhancers	NHEK	skin
47	chr19:44487800-44488200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:44487800-44488200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr19:44487800-44488200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr19:44487800-44488200	Weak transcription	Pancreas	Pancrea

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