Variant report

Variant	rs12916097
Chromosome Location	chr15:72787572-72787573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72765205..72767807-chr15:72787258..72790889,3	MCF-7	breast:
2	chr15:72786515..72788170-chr15:72792822..72795467,3	K562	blood:
3	chr15:72777447..72780290-chr15:72783902..72787727,3	MCF-7	breast:
4	chr15:72606264..72608892-chr15:72785290..72787989,2	K562	blood:
5	chr15:72773245..72779445-chr15:72780758..72788014,8	K562	blood:
6	chr15:72666709..72668215-chr15:72785590..72788082,2	MCF-7	breast:
7	chr15:72786811..72788654-chr15:72795891..72797783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000213614	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12906942	1.00[EUR][1000 genomes]
rs16956988	0.95[AFR][1000 genomes]
rs34083902	1.00[EUR][1000 genomes]
rs57155740	0.90[AFR][1000 genomes]
rs57769940	0.86[AFR][1000 genomes]
rs58110372	0.90[AFR][1000 genomes]
rs59029026	0.86[AFR][1000 genomes]
rs60106752	1.00[AFR][1000 genomes]
rs60207997	1.00[AFR][1000 genomes]
rs7174307	0.97[AFR][1000 genomes]
rs7175437	1.00[AFR][1000 genomes]
rs73442591	0.97[AFR][1000 genomes]
rs73442595	0.97[AFR][1000 genomes]
rs73444703	0.92[AFR][1000 genomes]
rs73444714	1.00[AFR][1000 genomes]
rs73444720	1.00[AFR][1000 genomes]
rs73444723	1.00[AFR][1000 genomes]
rs73444736	0.98[AFR][1000 genomes]
rs73444755	0.97[AFR][1000 genomes]
rs73444759	0.97[AFR][1000 genomes]
rs73444761	0.97[AFR][1000 genomes]
rs73444773	0.93[AFR][1000 genomes]
rs73444774	0.93[AFR][1000 genomes]
rs73444791	0.86[AFR][1000 genomes]
rs73444794	0.86[AFR][1000 genomes]
rs73444798	0.86[AFR][1000 genomes]
rs73444802	0.86[AFR][1000 genomes]
rs73446604	0.86[AFR][1000 genomes]
rs73446615	0.82[AFR][1000 genomes]
rs73446634	0.82[AFR][1000 genomes]
rs8035007	0.93[AFR][1000 genomes]
rs8036629	0.80[AFR][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	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72769200-72792000	Weak transcription	Fetal Kidney	kidney
3	chr15:72769600-72797000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:72770200-72788600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:72771400-72792000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:72772000-72792000	Weak transcription	Placenta	Placenta
10	chr15:72772200-72791800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:72772200-72794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:72772400-72791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
14	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:72774000-72796000	Weak transcription	Fetal Stomach	stomach
17	chr15:72774200-72794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:72775600-72788400	Weak transcription	Aorta	Aorta
19	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:72775800-72788400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:72775800-72796000	Weak transcription	Esophagus	oesophagus
22	chr15:72776000-72792000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:72777400-72790000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:72777800-72792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:72780000-72794400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:72780400-72812400	Weak transcription	HepG2	liver
27	chr15:72780800-72790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:72781400-72789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:72781400-72791800	Weak transcription	Dnd41	blood
30	chr15:72781600-72788200	Weak transcription	Fetal Intestine Small	intestine
31	chr15:72781600-72788200	Weak transcription	Ovary	ovary
32	chr15:72781800-72790400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:72782200-72808000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:72782600-72828400	Weak transcription	K562	blood
35	chr15:72782800-72788800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:72782800-72792000	Weak transcription	Fetal Thymus	thymus
37	chr15:72782800-72794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:72783000-72787600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:72783000-72788400	Weak transcription	Gastric	stomach
40	chr15:72783000-72788400	Weak transcription	Psoas Muscle	Psoas
41	chr15:72783000-72789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:72783000-72792000	Weak transcription	Primary T cells from cord blood	blood
43	chr15:72783200-72791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:72783400-72791400	Weak transcription	Fetal Intestine Large	intestine
45	chr15:72783400-72794800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr15:72783400-72796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:72783600-72794800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:72783800-72789400	Enhancers	Liver	Liver
49	chr15:72784000-72787600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:72784000-72787800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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