Variant report

Variant	rs2927455
Chromosome Location	chr19:45267258-45267259
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	chr19:45267178-45267575	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:45267078-45267321	A549	lung:	n/a	n/a
3	FOXP2	chr19:45267221-45267451	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45265440..45267901-chr19:45272381..45274040,2	MCF-7	breast:
2	chr19:45265783..45267838-chr19:45269587..45271373,2	MCF-7	breast:
3	chr19:45197818..45200393-chr19:45265561..45267950,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236807	TF binding region
ENSG00000253027	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10416720	1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10425556	0.98[EUR][1000 genomes]
rs1979377	0.85[EUR][1000 genomes]
rs2376553	0.89[ASN][1000 genomes]
rs2927451	0.82[EUR][1000 genomes]
rs2965131	0.85[ASN][1000 genomes]
rs2965133	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7249750	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv2506	chr19:45253263-45297811	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45262000-45278600	Weak transcription	Aorta	Aorta
2	chr19:45262800-45268000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:45263200-45269200	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:45263400-45268600	Weak transcription	Small Intestine	intestine
5	chr19:45263400-45270600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:45263400-45273600	Weak transcription	HMEC	breast
7	chr19:45263400-45279400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:45264000-45267400	Weak transcription	Primary B cells from cord blood	blood
9	chr19:45264000-45267600	Weak transcription	HSMMtube	muscle
10	chr19:45264000-45268000	Weak transcription	NHEK	skin
11	chr19:45264000-45268200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:45264000-45268200	Weak transcription	Pancreas	Pancrea
13	chr19:45264000-45268400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:45264000-45268400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:45264000-45268600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:45264000-45269000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:45264000-45270600	Weak transcription	GM12878-XiMat	blood
18	chr19:45264000-45270800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:45264000-45271000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:45264000-45273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:45264000-45274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:45264200-45270800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:45264200-45271000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:45264200-45271000	Weak transcription	Fetal Thymus	thymus
25	chr19:45264200-45273000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:45264200-45274200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:45264200-45274200	Weak transcription	NHLF	lung
28	chr19:45264200-45277200	Weak transcription	HUVEC	blood vessel
29	chr19:45264200-45281000	Weak transcription	Esophagus	oesophagus
30	chr19:45264400-45268200	Weak transcription	Gastric	stomach
31	chr19:45264400-45268600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:45264400-45273200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:45264400-45274200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:45264600-45268200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:45264800-45268200	Weak transcription	Liver	Liver
36	chr19:45264800-45271000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:45264800-45273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr19:45264800-45274200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:45264800-45276200	Weak transcription	NHDF-Ad	bronchial
40	chr19:45265000-45277200	Weak transcription	Osteobl	bone
41	chr19:45265600-45272000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr19:45265800-45268800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:45265800-45270600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:45266000-45268200	Enhancers	Hela-S3	cervix
45	chr19:45266200-45269600	Enhancers	Placenta	Placenta
46	chr19:45266400-45267600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:45266400-45267600	Enhancers	Spleen	Spleen
48	chr19:45266400-45267600	Enhancers	HepG2	liver
49	chr19:45266400-45268200	Enhancers	A549	lung
50	chr19:45266400-45269200	Enhancers	Colonic Mucosa	Colon

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