Variant report

Variant	rs34708122
Chromosome Location	chr15:45018132-45018133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr15:45018115-45020373	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:45017478-45022298	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:45016436-45022852	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:45016397-45023417	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:45017530-45022287	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:45016457-45022594	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:45016464-45022895	GM18505	blood:	n/a	n/a
8	POLR2A	chr15:45017483-45022411	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:45016449-45022997	GM12891	blood:	n/a	n/a
10	POLR2A	chr15:45017592-45022425	GM19193	blood:	n/a	n/a
11	POLR2A	chr15:45018118-45020433	GM12891	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
2	chr15:45003079..45005012-chr15:45015823..45018860,3	MCF-7	breast:
3	chr15:44875120..44878019-chr15:45017831..45020827,2	K562	blood:
4	chr15:44872601..44874196-chr15:45017482..45020327,2	K562	blood:
5	chr15:45007779..45009819-chr15:45018036..45020681,2	MCF-7	breast:
6	chr15:44829305..44830932-chr15:45017606..45019310,2	K562	blood:
7	chr15:45017018..45019763-chr15:45071670..45073544,3	K562	blood:
8	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
9	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
10	chr15:44988903..44990685-chr15:45017956..45020039,2	K562	blood:
11	chr15:45018082..45020935-chr15:45038655..45041399,2	K562	blood:

No data

Variant related genes	Relation type
TRIM69	TF binding region
ENSG00000104131	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000206957	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1288094	1.00[AMR][1000 genomes]
rs1669854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1901536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1901539	1.00[AMR][1000 genomes]
rs2167594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444011	1.00[AMR][1000 genomes]
rs2462044	1.00[AMR][1000 genomes]
rs2468072	1.00[AMR][1000 genomes]
rs2470916	1.00[AMR][1000 genomes]
rs2960207	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3100129	1.00[AMR][1000 genomes]
rs3100130	1.00[AMR][1000 genomes]
rs3100144	1.00[AMR][1000 genomes]
rs3100145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110178	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110179	0.89[AFR][1000 genomes]
rs3110180	1.00[AMR][1000 genomes]
rs3110673	1.00[AMR][1000 genomes]
rs3110674	1.00[AMR][1000 genomes]
rs34359070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34387827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4625702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4923992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4923994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45004600-45020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:45005000-45018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:45005000-45018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:45008600-45018400	Weak transcription	A549	lung
5	chr15:45008800-45018400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:45009000-45018200	Weak transcription	Stomach Mucosa	stomach
7	chr15:45009000-45018400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:45009000-45018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:45009000-45018400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:45009400-45018400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:45009400-45018600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:45009400-45020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:45009400-45020600	Weak transcription	Brain Angular Gyrus	brain
14	chr15:45009400-45020600	Weak transcription	Pancreas	Pancrea
15	chr15:45009400-45020600	Weak transcription	Right Ventricle	heart
16	chr15:45009400-45020800	Weak transcription	Aorta	Aorta
17	chr15:45009600-45018200	Weak transcription	NHEK	skin
18	chr15:45009600-45018400	Weak transcription	Esophagus	oesophagus
19	chr15:45009600-45020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:45009600-45020800	Weak transcription	Fetal Brain Male	brain
21	chr15:45009800-45018400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:45010200-45018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:45010200-45020600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:45010200-45020600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:45010200-45020600	Weak transcription	Fetal Kidney	kidney
26	chr15:45010400-45018400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:45010400-45018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:45010600-45018200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:45010600-45018400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:45010600-45018400	Weak transcription	Colonic Mucosa	Colon
31	chr15:45010600-45020200	Weak transcription	Psoas Muscle	Psoas
32	chr15:45010600-45020600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:45010600-45020600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:45010800-45018400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:45010800-45018600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:45010800-45020600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:45010800-45020600	Weak transcription	Ovary	ovary
38	chr15:45011000-45019000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:45011000-45020600	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:45011000-45020600	Weak transcription	Fetal Stomach	stomach
41	chr15:45011200-45018400	Weak transcription	HMEC	breast
42	chr15:45011200-45018600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:45011200-45018600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:45011200-45018600	Weak transcription	HSMM	muscle
45	chr15:45011200-45018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:45011200-45019800	Weak transcription	Brain Anterior Caudate	brain
47	chr15:45011200-45020000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:45011200-45020000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:45011400-45018200	Weak transcription	HUVEC	blood vessel
50	chr15:45011400-45018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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