Variant report

Variant	rs12912253
Chromosome Location	chr15:93167022-93167023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:93166622-93167194	GM12878	blood:	n/a	n/a
2	USF1	chr15:93166846-93167154	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:93164409..93168199-chr15:93168306..93170626,4	K562	blood:
2	chr15:93160189..93163896-chr15:93165743..93168738,4	MCF-7	breast:
3	chr15:93165242..93167435-chr15:93175583..93177925,2	MCF-7	breast:
4	chr15:93162245..93164640-chr15:93165176..93167543,2	MCF-7	breast:
5	chr15:93154756..93169106-chr15:93177301..93183879,27	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259064	TF binding region
ENSG00000259064	Chromatin interaction
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11074084	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866173	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386357	0.98[ASN][1000 genomes]
rs400510	0.98[ASN][1000 genomes]
rs4778017	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4778018	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8027029	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027047	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	esv1808537	chr15:93146057-93191935	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93151400-93167400	Weak transcription	Brain Germinal Matrix	brain
2	chr15:93151600-93178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:93156400-93167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:93156600-93168400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:93158000-93167600	Enhancers	Fetal Muscle Trunk	muscle
6	chr15:93158400-93167600	Weak transcription	Spleen	Spleen
7	chr15:93158600-93169800	Weak transcription	Primary T cells from cord blood	blood
8	chr15:93160200-93172800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:93160800-93168600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:93161200-93167200	Weak transcription	Lung	lung
11	chr15:93161200-93170200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:93161200-93170400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:93161200-93173000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:93161400-93178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:93161800-93168000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:93161800-93172600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:93162000-93167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:93162400-93172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:93162600-93167400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:93162600-93168000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:93162600-93168600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:93163000-93168000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:93163200-93167600	Weak transcription	Aorta	Aorta
24	chr15:93163200-93168600	Weak transcription	A549	lung
25	chr15:93163400-93167200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:93163400-93167200	Weak transcription	Right Atrium	heart
27	chr15:93163400-93167600	Weak transcription	Placenta	Placenta
28	chr15:93163400-93167600	Weak transcription	NH-A	brain
29	chr15:93163600-93167200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:93163600-93167400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:93163600-93167400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:93163600-93167400	Weak transcription	Adipose Nuclei	Adipose
33	chr15:93163600-93180600	Weak transcription	Small Intestine	intestine
34	chr15:93164000-93172200	Weak transcription	Ovary	ovary
35	chr15:93165000-93167800	Enhancers	GM12878-XiMat	blood
36	chr15:93165200-93167400	Strong transcription	Fetal Stomach	stomach
37	chr15:93165400-93168200	Enhancers	Pancreas	Pancrea
38	chr15:93165800-93167200	Enhancers	HSMM	muscle
39	chr15:93165800-93167200	Enhancers	HSMMtube	muscle
40	chr15:93165800-93167600	Enhancers	Brain Hippocampus Middle	brain
41	chr15:93166000-93167600	Weak transcription	Fetal Intestine Small	intestine
42	chr15:93166000-93168800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:93166000-93169200	Enhancers	Right Ventricle	heart
44	chr15:93166000-93169400	Enhancers	Fetal Muscle Leg	muscle
45	chr15:93166000-93169600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:93166400-93167200	Enhancers	HMEC	breast
47	chr15:93166400-93168200	Enhancers	Left Ventricle	heart
48	chr15:93166400-93168200	Enhancers	Psoas Muscle	Psoas
49	chr15:93166400-93168800	Weak transcription	Fetal Kidney	kidney
50	chr15:93166400-93169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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