Variant report

Variant	rs12916286
Chromosome Location	chr15:93180957-93180958
allele	C/T
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	chr15:93180068..93182597-chr15:93441905..93444737,2	MCF-7	breast:
2	chr15:93147223..93149686-chr15:93178777..93181726,2	MCF-7	breast:
3	chr15:93180406..93181087-chr15:93188878..93189384,2	MCF-7	breast:
4	chr15:93180406..93183251-chr15:93430441..93434489,3	MCF-7	breast:
5	chr15:93179390..93182218-chr15:93285466..93288131,2	MCF-7	breast:
6	chr15:93179900..93181087-chr15:93188477..93189400,6	MCF-7	breast:
7	chr15:93179667..93180988-chr15:93188433..93189415,4	MCF-7	breast:
8	chr15:93179227..93181968-chr15:93219677..93222839,3	MCF-7	breast:
9	chr15:93062742..93066323-chr15:93179954..93182328,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173575	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12905791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917366	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs285764	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285766	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs285767	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34824084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71412555	1.00[ASN][1000 genomes]
rs71412556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71412557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93171000-93197400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:93176000-93182000	Enhancers	Pancreas	Pancrea
3	chr15:93176000-93182200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:93176800-93182600	Enhancers	Gastric	stomach
5	chr15:93177000-93182600	Enhancers	Fetal Muscle Leg	muscle
6	chr15:93177200-93183000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr15:93177400-93182400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr15:93177600-93181200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:93177600-93182600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:93177800-93181200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:93178000-93181200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr15:93178000-93188400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:93178200-93182400	Enhancers	Fetal Lung	lung
14	chr15:93178400-93181000	Enhancers	Rectal Smooth Muscle	rectum
15	chr15:93178400-93182600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:93178400-93182800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr15:93178600-93182200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr15:93178800-93181000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:93178800-93181600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:93178800-93182200	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:93178800-93187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:93179000-93181600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr15:93179200-93182400	Enhancers	Colon Smooth Muscle	Colon
24	chr15:93179200-93182600	Enhancers	Left Ventricle	heart
25	chr15:93179600-93182600	Enhancers	Ovary	ovary
26	chr15:93179600-93183000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:93179800-93181200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:93179800-93181200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:93179800-93181200	Enhancers	Lung	lung
30	chr15:93179800-93182200	Enhancers	Placenta	Placenta
31	chr15:93179800-93182400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr15:93179800-93182400	Enhancers	Right Ventricle	heart
33	chr15:93179800-93182400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr15:93179800-93182600	Enhancers	Esophagus	oesophagus
35	chr15:93179800-93182600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr15:93179800-93183000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:93180000-93181000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:93180000-93182400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:93180200-93181000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr15:93180200-93181200	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:93180200-93181400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:93180200-93181800	Weak transcription	Spleen	Spleen
43	chr15:93180200-93181800	Enhancers	A549	lung
44	chr15:93180200-93182400	Enhancers	Brain Hippocampus Middle	brain
45	chr15:93180200-93182600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:93180200-93182800	Enhancers	Brain Angular Gyrus	brain
47	chr15:93180200-93187200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:93180400-93181000	Weak transcription	Psoas Muscle	Psoas
49	chr15:93180400-93181000	Enhancers	Stomach Smooth Muscle	stomach
50	chr15:93180400-93181800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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