Variant report

Variant	rs12984266
Chromosome Location	chr19:45193534-45193535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45151646..45153509-chr19:45191754..45194154,2	MCF-7	breast:
2	chr19:45188304..45193849-chr19:45197312..45200254,4	K562	blood:
3	chr19:45192588..45195517-chr19:45250101..45253474,5	MCF-7	breast:
4	chr19:45192349..45194875-chr19:45196468..45199785,3	K562	blood:
5	chr19:45193090..45195982-chr19:45196210..45199723,4	MCF-7	breast:
6	chr19:45191851..45194664-chr19:45200401..45201949,2	K562	blood:
7	chr19:45191325..45194588-chr19:45346772..45349538,4	MCF-7	breast:
8	chr19:45193034..45198920-chr19:45224756..45231512,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073008	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000252200	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs35401363	0.82[EUR][1000 genomes]
rs4803740	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119329	0.91[EUR][1000 genomes]
rs8108698	1.00[CHD][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	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	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
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12984266	DKKL1	cis	parietal	SCAN
rs12984266	KLK15	cis	parietal	SCAN
rs12984266	ZNF611	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45166000-45197400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:45181600-45198800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:45182400-45195200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:45185000-45195000	Weak transcription	HSMMtube	muscle
5	chr19:45187200-45195200	Weak transcription	Ovary	ovary
6	chr19:45188400-45195400	Weak transcription	Fetal Heart	heart
7	chr19:45188600-45195200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:45189400-45195000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:45189400-45195000	Weak transcription	NHLF	lung
10	chr19:45189600-45195000	Weak transcription	NH-A	brain
11	chr19:45189600-45195000	Weak transcription	NHDF-Ad	bronchial
12	chr19:45189600-45195000	Weak transcription	Osteobl	bone
13	chr19:45190200-45194800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:45190600-45195000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:45190600-45195000	Weak transcription	HSMM	muscle
16	chr19:45191400-45193600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:45191600-45195000	Weak transcription	Primary B cells from cord blood	blood
18	chr19:45192400-45193600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr19:45192400-45193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:45192400-45193600	Enhancers	Lung	lung
21	chr19:45192400-45193600	Enhancers	Pancreas	Pancrea
22	chr19:45192400-45193600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr19:45192400-45193800	Enhancers	Hela-S3	cervix
24	chr19:45192400-45195000	Enhancers	GM12878-XiMat	blood
25	chr19:45192400-45202000	Enhancers	Liver	Liver
26	chr19:45192600-45193600	Enhancers	Primary hematopoietic stem cells	blood
27	chr19:45192600-45193600	Enhancers	Fetal Intestine Large	intestine
28	chr19:45192600-45193600	Enhancers	Fetal Intestine Small	intestine
29	chr19:45192600-45193600	Flanking Active TSS	HepG2	liver
30	chr19:45192600-45195000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:45192600-45195000	Weak transcription	NHEK	skin
32	chr19:45192600-45195200	Weak transcription	Right Atrium	heart
33	chr19:45192800-45193600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr19:45192800-45193600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr19:45192800-45194800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:45192800-45195000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:45192800-45195000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:45192800-45195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:45192800-45195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:45192800-45195200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr19:45193000-45194400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:45193000-45194800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:45193000-45194800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:45193000-45194800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:45193000-45194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:45193000-45195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:45193000-45195000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:45193000-45195000	Weak transcription	HMEC	breast
49	chr19:45193000-45195000	Weak transcription	K562	blood
50	chr19:45193000-45195200	Weak transcription	Fetal Muscle Leg	muscle

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