Variant report

Variant	rs2871992
Chromosome Location	chr19:36025785-36025786
allele	G/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	chr19:36024257-36026256	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:36024184-36026238	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36016131..36020152-chr19:36024353..36027315,3	MCF-7	breast:
2	chr19:35999942..36003176-chr19:36022063..36025878,4	K562	blood:
3	chr19:36023017..36025898-chr19:36026199..36029344,3	K562	blood:

Variant related genes	Relation type
GAPDHS	TF binding region
ENSG00000189001	Chromatin interaction
ENSG00000105679	Chromatin interaction
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16970357	1.00[AMR][1000 genomes]
rs73599225	1.00[AMR][1000 genomes]
rs73599249	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv911628	chr19:35999491-36056253	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36016000-36027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36022600-36032000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:36024400-36025800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:36025000-36025800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:36025000-36025800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36025000-36025800	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:36025000-36025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36025000-36026000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:36025000-36026200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr19:36025000-36026200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:36025000-36029400	Weak transcription	Spleen	Spleen
12	chr19:36025000-36030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36025000-36031000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:36025000-36031000	Weak transcription	HMEC	breast
15	chr19:36025000-36032800	Weak transcription	Esophagus	oesophagus
16	chr19:36025000-36033400	Weak transcription	Gastric	stomach
17	chr19:36025000-36035200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:36025000-36035200	Weak transcription	Right Atrium	heart
19	chr19:36025000-36035200	Weak transcription	NHDF-Ad	bronchial
20	chr19:36025000-36035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:36025200-36025800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:36025200-36026200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:36025200-36031000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:36025200-36032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:36025200-36035200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:36025400-36025800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:36025400-36025800	Enhancers	HepG2	liver
28	chr19:36025400-36029600	Weak transcription	GM12878-XiMat	blood
29	chr19:36025400-36030800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:36025400-36034600	Weak transcription	Pancreas	Pancrea
31	chr19:36025400-36035400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:36025400-36035600	Weak transcription	Primary T cells from cord blood	blood
33	chr19:36025600-36026000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr19:36025600-36026200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr19:36025600-36026200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:36025600-36027600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:36025600-36029600	Weak transcription	A549	lung
38	chr19:36025600-36030200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:36025600-36030600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:36025600-36033400	Weak transcription	NHLF	lung
41	chr19:36025600-36035200	Weak transcription	Primary B cells from cord blood	blood
42	chr19:36025600-36035400	Weak transcription	Thymus	Thymus

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