Variant report

Variant	rs2075475
Chromosome Location	chr19:36633277-36633278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36630208-36633376	K562	blood:	n/a	n/a
2	POLR2A	chr19:36633170-36634248	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:36633273-36633379	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
2	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
3	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
4	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
5	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:

No data

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000105261	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17885022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239586	1.00[AFR][1000 genomes]
rs4419170	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv579424	chr19:36630803-36633645	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36632200-36634000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:36632200-36634000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:36632400-36633400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:36632400-36635400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36632600-36633400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:36632600-36633400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:36632600-36633400	Enhancers	Fetal Brain Male	brain
8	chr19:36632600-36633600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:36632600-36633600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr19:36632600-36633600	Genic enhancers	Fetal Muscle Leg	muscle
11	chr19:36632600-36633600	Genic enhancers	Spleen	Spleen
12	chr19:36632600-36641800	Strong transcription	Fetal Thymus	thymus
13	chr19:36632800-36633400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:36632800-36633400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36632800-36633400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:36632800-36633400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:36632800-36633400	Weak transcription	Fetal Kidney	kidney
18	chr19:36632800-36633400	Weak transcription	Gastric	stomach
19	chr19:36632800-36633600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:36632800-36633600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:36632800-36633600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:36632800-36633600	Genic enhancers	Brain Germinal Matrix	brain
23	chr19:36632800-36633600	Genic enhancers	Lung	lung
24	chr19:36632800-36633600	Weak transcription	NHDF-Ad	bronchial
25	chr19:36632800-36633800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:36632800-36633800	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:36632800-36635400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:36632800-36636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:36632800-36638400	Strong transcription	K562	blood
30	chr19:36632800-36641000	Strong transcription	Fetal Lung	lung
31	chr19:36632800-36641000	Weak transcription	Right Atrium	heart
32	chr19:36632800-36641200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr19:36632800-36641400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:36632800-36641400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:36632800-36641600	Strong transcription	NHLF	lung
36	chr19:36632800-36642000	Strong transcription	Fetal Intestine Small	intestine
37	chr19:36632800-36642200	Strong transcription	Brain Substantia Nigra	brain
38	chr19:36632800-36643000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:36633000-36633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36633000-36633400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:36633000-36633400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:36633000-36633400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:36633000-36633400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:36633000-36633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:36633000-36633400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:36633000-36633400	Weak transcription	Brain Angular Gyrus	brain
49	chr19:36633000-36633400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:36633000-36633400	Genic enhancers	Fetal Brain Female	brain

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