Variant report

Variant	rs12911385
Chromosome Location	chr15:74493886-74493887
allele	C/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	CHD2	chr15:74492673-74494429	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr15:74492604-74494571	Hela-S3	cervix:	n/a	n/a
3	TFAP2C	chr15:74492581-74495035	Hela-S3	cervix:	n/a	chr15:74493490-74493505 chr15:74492911-74492926
4	CEBPB	chr15:74492569-74494496	Hela-S3	cervix:	n/a	n/a
5	SMARCC1	chr15:74492611-74495990	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr15:74492582-74494497	Hela-S3	cervix:	n/a	n/a
7	GTF2F1	chr15:74492627-74494466	Hela-S3	cervix:	n/a	n/a
8	ZKSCAN1	chr15:74492839-74494367	Hela-S3	cervix:	n/a	n/a
9	ZNF263	chr15:74493214-74494496	HEK293-T-REx	kidney:	n/a	n/a
10	MAZ	chr15:74492692-74494369	Hela-S3	cervix:	n/a	chr15:74492902-74492911 chr15:74493646-74493656
11	SIN3AK20	chr15:74492465-74494667	MCF-7	breast:	n/a	n/a
12	SMC3	chr15:74492634-74494453	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr15:74492648-74494437	Hela-S3	cervix:	n/a	n/a
14	TFAP2A	chr15:74492626-74495193	Hela-S3	cervix:	n/a	chr15:74494897-74494905 chr15:74494886-74494898 chr15:74494905-74494916 chr15:74494897-74494905 chr15:74495170-74495180 chr15:74494896-74494904 chr15:74494897-74494905 chr15:74493490-74493505 chr15:74494896-74494904 chr15:74493234-74493249 chr15:74494896-74494904 chr15:74494886-74494898

No.	Distal block	Cell Line	Cell type
1	chr15:74478980..74480513-chr15:74491993..74494403,2	MCF-7	breast:
2	chr15:74492912..74495035-chr15:74502031..74504562,2	MCF-7	breast:
3	chr15:74481853..74488513-chr15:74489689..74497281,13	MCF-7	breast:
4	chr15:74421502..74423343-chr15:74491775..74494417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259264	TF binding region
ENSG00000137868	Chromatin interaction
ENSG00000248540	Chromatin interaction
ENSG00000167178	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10851870	0.82[ASN][1000 genomes]
rs17386715	0.83[ASN][1000 genomes]
rs2629727	0.90[ASN][1000 genomes]
rs351156	0.88[ASN][1000 genomes]
rs351222	0.82[ASN][1000 genomes]
rs351223	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74489200-74509600	Weak transcription	Gastric	stomach
2	chr15:74489400-74499000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:74490600-74496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:74491000-74503200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:74491400-74494800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:74491600-74494000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:74491600-74494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:74491600-74494200	Enhancers	Fetal Intestine Large	intestine
9	chr15:74492000-74496800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:74492400-74495000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr15:74492600-74494000	Enhancers	Left Ventricle	heart
12	chr15:74492600-74494200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:74492600-74494200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr15:74492600-74494200	Enhancers	Adipose Nuclei	Adipose
15	chr15:74492600-74494200	Enhancers	HSMM	muscle
16	chr15:74492600-74494400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74492600-74494600	Enhancers	Esophagus	oesophagus
18	chr15:74492600-74494600	Enhancers	Spleen	Spleen
19	chr15:74492600-74494800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:74492600-74494800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:74492600-74494800	Flanking Active TSS	A549	lung
22	chr15:74492600-74494800	Enhancers	NHEK	skin
23	chr15:74492600-74495000	Enhancers	Right Atrium	heart
24	chr15:74492600-74495000	Enhancers	NHDF-Ad	bronchial
25	chr15:74492600-74495400	Flanking Active TSS	Placenta	Placenta
26	chr15:74492600-74495400	Enhancers	Right Ventricle	heart
27	chr15:74492600-74495600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:74492600-74495800	Flanking Active TSS	Hela-S3	cervix
29	chr15:74492600-74496200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:74492600-74496400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:74492600-74496400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:74492600-74496600	Enhancers	HMEC	breast
33	chr15:74492600-74496800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:74492600-74497000	Enhancers	Ovary	ovary
35	chr15:74492600-74497000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:74492600-74497400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:74492600-74497800	Enhancers	GM12878-XiMat	blood
38	chr15:74492600-74498000	Enhancers	Fetal Lung	lung
39	chr15:74492600-74503200	Enhancers	Fetal Muscle Leg	muscle
40	chr15:74492800-74494200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:74492800-74494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:74492800-74494400	Enhancers	NHLF	lung
43	chr15:74492800-74494600	Enhancers	HSMMtube	muscle
44	chr15:74492800-74494800	Enhancers	Fetal Kidney	kidney
45	chr15:74492800-74494800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:74492800-74496600	Enhancers	Fetal Heart	heart
47	chr15:74493000-74494800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr15:74493000-74495000	Enhancers	Fetal Thymus	thymus
49	chr15:74493000-74496800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr15:74493200-74494000	Enhancers	Rectal Smooth Muscle	rectum

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