Variant report

Variant	rs12912395
Chromosome Location	chr15:74288054-74288055
allele	G/T
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	chr15:74286936-74291631	K562	blood:	n/a	n/a
2	IRF1	chr15:74286724-74288111	K562	blood:	n/a	chr15:74287129-74287143 chr15:74287128-74287142 chr15:74287129-74287143 chr15:74287129-74287142 chr15:74287132-74287142 chr15:74287693-74287705 chr15:74287345-74287354 chr15:74287006-74287015
3	POLR2A	chr15:74287420-74288078	HL-60	blood:	n/a	n/a
4	GATA1	chr15:74287476-74289215	PBDE	blood:	n/a	n/a
5	MTA3	chr15:74286562-74288105	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:74286634-74288096	GM12891	blood:	n/a	n/a
7	TBP	chr15:74287758-74288100	GM12878	blood:	n/a	n/a
8	HCFC1	chr15:74286194-74288061	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr15:74287877-74288443	GM12878	blood:	n/a	n/a
10	MXI1	chr15:74287465-74288123	GM12878	blood:	n/a	n/a
11	MXI1	chr15:74286248-74288090	SK-N-SH	brain:	n/a	n/a
12	IRF1	chr15:74286704-74288102	K562	blood:	n/a	chr15:74287129-74287143 chr15:74287128-74287142 chr15:74287129-74287143 chr15:74287129-74287142 chr15:74287132-74287142 chr15:74287693-74287705 chr15:74287345-74287354 chr15:74287006-74287015
13	STAT5A	chr15:74287705-74288108	GM12878	blood:	n/a	n/a
14	ELF1	chr15:74287945-74288299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
2	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
3	chr15:74286840..74288514-chr15:74288531..74291100,2	MCF-7	breast:

Variant related genes	Relation type
STOML1	TF binding region
PML	TF binding region
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10162627	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072464	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072465	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11072466	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11072467	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11072469	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11633520	0.86[ASN][1000 genomes]
rs11636016	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12592370	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12901603	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12904213	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12908748	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12917179	0.85[AMR][1000 genomes]
rs2304715	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2304717	0.81[AMR][1000 genomes]
rs2304718	0.81[AMR][1000 genomes]
rs4886844	0.86[AMR][1000 genomes]
rs8027774	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8039276	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8043489	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74286200-74288400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:74286200-74288400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:74286200-74288600	Active TSS	Fetal Intestine Small	intestine
4	chr15:74286200-74290000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:74286400-74288200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:74286400-74288200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:74286400-74288600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:74286400-74289400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:74286400-74289400	Active TSS	Aorta	Aorta
10	chr15:74286400-74289800	Active TSS	Psoas Muscle	Psoas
11	chr15:74286400-74290200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:74286600-74288200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:74286600-74288200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:74286600-74288200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr15:74286600-74288200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr15:74286600-74288400	Active TSS	Colon Smooth Muscle	Colon
17	chr15:74286600-74288400	Active TSS	Esophagus	oesophagus
18	chr15:74286600-74288400	Active TSS	Fetal Intestine Large	intestine
19	chr15:74286600-74288400	Active TSS	Small Intestine	intestine
20	chr15:74286600-74288600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:74286600-74288600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr15:74286600-74288600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:74286600-74288600	Active TSS	Rectal Smooth Muscle	rectum
24	chr15:74286600-74288800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:74286600-74288800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:74286600-74289000	Active TSS	Colonic Mucosa	Colon
27	chr15:74286600-74289000	Active TSS	HSMMtube	muscle
28	chr15:74286600-74289200	Active TSS	HSMM	muscle
29	chr15:74286600-74289400	Active TSS	Left Ventricle	heart
30	chr15:74286600-74289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:74286600-74289800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:74286600-74289800	Active TSS	Right Ventricle	heart
33	chr15:74286600-74290000	Active TSS	Fetal Kidney	kidney
34	chr15:74286600-74290000	Active TSS	Right Atrium	heart
35	chr15:74286600-74290000	Active TSS	NHDF-Ad	bronchial
36	chr15:74286800-74288200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:74286800-74288200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:74286800-74288200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:74286800-74288400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr15:74286800-74288400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr15:74286800-74288400	Active TSS	Duodenum Mucosa	Duodenum
42	chr15:74286800-74288400	Active TSS	NHLF	lung
43	chr15:74286800-74288600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:74286800-74288600	Active TSS	K562	blood
45	chr15:74286800-74288600	Active TSS	NHEK	skin
46	chr15:74286800-74289000	Active TSS	HMEC	breast
47	chr15:74286800-74289800	Active TSS	GM12878-XiMat	blood
48	chr15:74286800-74290000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:74286800-74290000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:74287000-74288200	Active TSS	HUVEC	blood vessel

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