Variant report

Variant	rs17612368
Chromosome Location	chr15:52361903-52361904
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52343651..52347096-chr15:52360408..52363365,3	K562	blood:
2	chr15:52360023..52361929-chr15:52364183..52367724,3	K562	blood:
3	chr15:52359845..52362361-chr15:52369816..52371937,2	MCF-7	breast:
4	chr15:52309819..52313849-chr15:52359399..52361958,4	MCF-7	breast:
5	chr15:52327404..52329717-chr15:52360419..52362718,2	MCF-7	breast:
6	chr15:52359410..52361152-chr15:52361561..52364348,3	MCF-7	breast:
7	chr15:52308069..52314807-chr15:52359242..52376066,34	MCF-7	breast:
8	chr15:52331117..52335082-chr15:52360597..52363150,3	K562	blood:
9	chr15:52344231..52347096-chr15:52361163..52363365,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1035738	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17612706	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv1039841	chr15:52357448-52381377	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17612368	DDX43	trans	lymphoblastoid	seeQTL
rs17612368	TEAD2	trans	lymphoblastoid	seeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52340200-52362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:52344600-52362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:52352200-52363600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:52353000-52362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:52353200-52370800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:52353600-52368800	Weak transcription	HSMMtube	muscle
7	chr15:52355600-52363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:52356000-52363200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:52356200-52363600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:52356200-52364000	Weak transcription	Fetal Lung	lung
11	chr15:52356200-52364400	Weak transcription	Lung	lung
12	chr15:52356200-52366000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:52356200-52368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:52356200-52368800	Weak transcription	HUVEC	blood vessel
15	chr15:52356200-52369000	Weak transcription	Hela-S3	cervix
16	chr15:52356400-52368600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:52357000-52362000	Weak transcription	Brain Anterior Caudate	brain
18	chr15:52357200-52371200	Weak transcription	Spleen	Spleen
19	chr15:52357400-52363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:52357600-52362000	Weak transcription	Dnd41	blood
21	chr15:52357600-52363400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:52357600-52368600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:52357600-52368600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr15:52357600-52369000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr15:52357600-52373200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:52357800-52363400	Weak transcription	Placenta	Placenta
27	chr15:52357800-52368800	Weak transcription	NH-A	brain
28	chr15:52357800-52370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:52358000-52366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:52358000-52369000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:52358600-52362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:52358600-52371000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:52358800-52363800	Enhancers	HMEC	breast
34	chr15:52358800-52368600	Weak transcription	HSMM	muscle
35	chr15:52358800-52368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:52359000-52364000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:52359000-52364600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:52359000-52364800	Enhancers	NHEK	skin
39	chr15:52359200-52364600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:52359200-52364800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:52359200-52368800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:52359600-52362600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:52359800-52363400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr15:52360000-52363600	Enhancers	Liver	Liver
45	chr15:52360800-52363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:52361200-52362200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:52361200-52362800	Enhancers	Duodenum Mucosa	Duodenum
48	chr15:52361200-52364600	Enhancers	Stomach Mucosa	stomach
49	chr15:52361400-52362000	Enhancers	Small Intestine	intestine
50	chr15:52361400-52362400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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