Variant report

Variant	rs2072605
Chromosome Location	chr19:36603703-36603704
allele	A/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	chr19:36603666-36603836	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36543835..36550918-chr19:36603651..36608049,11	MCF-7	breast:
2	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
3	chr19:36601583..36604210-chr19:36609754..36611847,2	MCF-7	breast:

Variant related genes	Relation type
TBCB	TF binding region
ENSG00000126247	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1008328	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10418079	0.82[EUR][1000 genomes]
rs10853945	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980591	0.99[ASN][1000 genomes]
rs12981698	0.82[CEU][hapmap]
rs12982375	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1548506	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972511	1.00[ASN][1000 genomes]
rs1985404	1.00[ASN][1000 genomes]
rs2051800	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285745	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2301736	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2311004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3746271	0.99[ASN][1000 genomes]
rs3810447	0.80[EUR][1000 genomes]
rs4805160	0.99[ASN][1000 genomes]
rs4806265	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806269	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4806270	1.00[ASN][1000 genomes]
rs6510519	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7246292	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs757223	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072605	POLR2I///RPSA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr19:36594800-36604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:36595600-36604000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:36595800-36604000	Weak transcription	HMEC	breast
13	chr19:36596200-36603800	Weak transcription	GM12878-XiMat	blood
14	chr19:36596200-36604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:36596600-36603800	Weak transcription	K562	blood
16	chr19:36597600-36604600	Weak transcription	HSMMtube	muscle
17	chr19:36598200-36604000	Weak transcription	Fetal Brain Male	brain
18	chr19:36599400-36603800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:36600200-36603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:36600200-36604400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:36600800-36604400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:36601000-36604000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:36601200-36604000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr19:36601400-36603800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:36601400-36603800	Strong transcription	Brain Germinal Matrix	brain
26	chr19:36601400-36604000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:36601400-36604000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:36601400-36604200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:36601400-36604200	Strong transcription	Fetal Stomach	stomach
30	chr19:36601400-36604200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:36601400-36604400	Strong transcription	Liver	Liver
32	chr19:36601400-36604600	Weak transcription	Stomach Mucosa	stomach
33	chr19:36601600-36604000	Strong transcription	Pancreas	Pancrea
34	chr19:36601600-36604200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:36601600-36604200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:36601600-36604200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:36601600-36604200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr19:36601600-36604400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:36601600-36604400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:36601600-36604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:36601600-36604400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:36601600-36604400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:36601600-36604400	Strong transcription	Adipose Nuclei	Adipose
44	chr19:36601600-36604400	Strong transcription	Fetal Intestine Large	intestine
45	chr19:36601600-36604400	Strong transcription	Placenta	Placenta
46	chr19:36601600-36604400	Strong transcription	Lung	lung
47	chr19:36601600-36604400	Strong transcription	A549	lung
48	chr19:36601800-36603800	Strong transcription	Gastric	stomach
49	chr19:36601800-36604200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:36601800-36604200	Strong transcription	Spleen	Spleen

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