Variant report

Variant	rs2231575
Chromosome Location	chr19:36612481-36612482
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	chr19:36612383-36613111	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36604785..36608680-chr19:36610341..36613498,5	K562	blood:

Variant related genes	Relation type
TBCB	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000105258	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11880041	1.00[EUR][1000 genomes]
rs11880325	1.00[EUR][1000 genomes]
rs11881368	1.00[EUR][1000 genomes]
rs11881607	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12979978	1.00[EUR][1000 genomes]
rs17878759	1.00[AMR][1000 genomes]
rs61747277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245415	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257438	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7257806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105644	1.00[EUR][1000 genomes]
rs8106415	1.00[EUR][1000 genomes]
rs8106581	1.00[EUR][1000 genomes]
rs8108828	1.00[EUR][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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
2	chr19:36607400-36612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36607400-36612800	Weak transcription	HSMMtube	muscle
4	chr19:36607400-36613800	Weak transcription	HSMM	muscle
5	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
6	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
8	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
10	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
11	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
12	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
13	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
15	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
16	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:36607600-36617000	Strong transcription	Osteobl	bone
18	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
21	chr19:36607600-36618400	Weak transcription	K562	blood
22	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:36608000-36613200	Strong transcription	Fetal Thymus	thymus
24	chr19:36608000-36616800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:36608000-36617000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:36608000-36617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:36608000-36617000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:36608000-36617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:36608000-36617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:36608000-36617200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:36608000-36617200	Strong transcription	Adipose Nuclei	Adipose
34	chr19:36608000-36617200	Strong transcription	Spleen	Spleen
35	chr19:36608000-36617200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:36608000-36617800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:36608000-36618000	Strong transcription	Fetal Stomach	stomach
38	chr19:36608200-36615800	Weak transcription	Hela-S3	cervix
39	chr19:36608200-36617000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:36608200-36617000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:36608200-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:36608200-36617200	Strong transcription	A549	lung
43	chr19:36608200-36618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr19:36608400-36612800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:36608400-36614200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:36608400-36616000	Weak transcription	HMEC	breast
47	chr19:36608400-36616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:36608600-36613800	Weak transcription	Fetal Brain Male	brain
49	chr19:36608600-36617000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:36608800-36617000	Strong transcription	Colon Smooth Muscle	Colon

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