Variant report

Variant	rs2075473
Chromosome Location	chr19:36602450-36602451
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	POLR2A	chr19:36602263-36602629	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:36596983-36603152	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:36601329-36602725	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:36602349-36602841	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:36601957-36602546	K562	blood:	n/a	n/a
6	POLR2A	chr19:36602261-36602505	A549	lung:	n/a	n/a
7	POLR2A	chr19:36602209-36602497	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:36602139-36602645	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:36602021-36602467	A549	lung:	n/a	n/a
10	POLR2A	chr19:36602338-36602699	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:36602228-36602536	K562	blood:	n/a	n/a
12	POLR2A	chr19:36602181-36602534	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
2	chr19:36601583..36604210-chr19:36609754..36611847,2	MCF-7	breast:

Variant related genes	Relation type
OVOL3	TF binding region
TBCB	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000126247	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1016992	1.00[CHB][hapmap]
rs1016993	1.00[CHB][hapmap]
rs1016994	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2073897	1.00[CHB][hapmap];0.83[CHD][hapmap]

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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
3	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:36585200-36604400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:36588400-36604800	Weak transcription	NH-A	brain
6	chr19:36590200-36604600	Strong transcription	Fetal Intestine Small	intestine
7	chr19:36590400-36605000	Weak transcription	Aorta	Aorta
8	chr19:36590600-36604800	Weak transcription	Psoas Muscle	Psoas
9	chr19:36592400-36604800	Weak transcription	Right Atrium	heart
10	chr19:36593200-36602600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:36593400-36603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:36594000-36603400	Weak transcription	Hela-S3	cervix
13	chr19:36594800-36603600	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:36594800-36604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:36595000-36602600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:36595000-36603600	Weak transcription	HepG2	liver
17	chr19:36595600-36603400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:36595600-36603400	Weak transcription	HSMM	muscle
19	chr19:36595600-36603400	Weak transcription	HUVEC	blood vessel
20	chr19:36595600-36604000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:36595800-36604000	Weak transcription	HMEC	breast
22	chr19:36596200-36603400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:36596200-36603800	Weak transcription	GM12878-XiMat	blood
24	chr19:36596200-36604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:36596400-36603600	Weak transcription	Osteobl	bone
26	chr19:36596600-36603400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:36596600-36603800	Weak transcription	K562	blood
28	chr19:36597600-36602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:36597600-36603400	Weak transcription	Right Ventricle	heart
30	chr19:36597600-36603400	Weak transcription	Dnd41	blood
31	chr19:36597600-36604600	Weak transcription	HSMMtube	muscle
32	chr19:36598000-36603400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr19:36598200-36603600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:36598200-36604000	Weak transcription	Fetal Brain Male	brain
35	chr19:36599400-36603800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:36600200-36603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:36600200-36604400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:36600800-36604400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:36601000-36604000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:36601200-36604000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:36601400-36602600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr19:36601400-36602600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:36601400-36602600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36601400-36602600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36601400-36602800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr19:36601400-36602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr19:36601400-36603200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:36601400-36603800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:36601400-36603800	Strong transcription	Brain Germinal Matrix	brain
50	chr19:36601400-36604000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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