Variant report

Variant	rs1133316
Chromosome Location	chr15:72782297-72782298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72765013..72768991-chr15:72777549..72785933,11	MCF-7	breast:
2	chr15:72773245..72779445-chr15:72780758..72788014,8	K562	blood:

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10518988	0.83[AMR][1000 genomes]
rs10744963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10851858	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes]
rs11072365	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072372	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs1160608	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631125	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637103	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638897	0.81[AMR][1000 genomes]
rs11855682	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12439018	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12441929	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12900846	0.81[AMR][1000 genomes]
rs12908610	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910393	0.90[AMR][1000 genomes]
rs12912445	0.83[AMR][1000 genomes]
rs12913503	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1374092	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1562250	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278694	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415135	0.87[ASW][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs2415139	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415141	0.81[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3842946	0.81[AMR][1000 genomes]
rs4146285	0.88[AMR][1000 genomes]
rs4146286	0.81[AMR][1000 genomes]
rs4776601	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777512	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777517	0.81[ASW][hapmap];0.85[MEX][hapmap]
rs4777520	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs6495011	0.83[AMR][1000 genomes]
rs7167521	0.80[EUR][1000 genomes]
rs7174287	0.80[ASN][1000 genomes]
rs7496556	0.93[ASW][hapmap];0.88[MKK][hapmap]
rs8025088	0.83[AMR][1000 genomes]
rs8026681	0.81[ASW][hapmap];0.85[MEX][hapmap];0.85[AMR][1000 genomes]
rs8030499	0.93[ASW][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes]
rs8037282	0.81[ASW][hapmap]
rs8038734	0.81[AMR][1000 genomes]
rs8038934	0.82[AMR][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	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72769200-72792000	Weak transcription	Fetal Kidney	kidney
4	chr15:72769600-72797000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:72769800-72782800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:72770000-72786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:72770200-72788600	Weak transcription	Brain Germinal Matrix	brain
10	chr15:72770400-72782600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:72771400-72782800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:72771400-72792000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:72772000-72782400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:72772000-72792000	Weak transcription	Placenta	Placenta
16	chr15:72772200-72791800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:72772200-72794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:72772400-72791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
20	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:72774000-72782600	Weak transcription	Spleen	Spleen
23	chr15:72774000-72785000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:72774000-72796000	Weak transcription	Fetal Stomach	stomach
25	chr15:72774200-72784000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:72774200-72786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:72774200-72794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:72775600-72788400	Weak transcription	Aorta	Aorta
29	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:72775800-72785200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:72775800-72788400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:72775800-72796000	Weak transcription	Esophagus	oesophagus
33	chr15:72776000-72782400	Weak transcription	Primary T cells from cord blood	blood
34	chr15:72776000-72782800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:72776000-72792000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:72777400-72786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr15:72777400-72790000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:72777600-72783600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr15:72777800-72792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:72778000-72782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:72778000-72783400	Enhancers	Liver	Liver
42	chr15:72778600-72783000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:72778600-72786600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:72778800-72783000	Enhancers	Psoas Muscle	Psoas
45	chr15:72779000-72782600	Weak transcription	Gastric	stomach
46	chr15:72779400-72787200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:72779600-72785800	Enhancers	Adipose Nuclei	Adipose
48	chr15:72779800-72783000	Enhancers	Colon Smooth Muscle	Colon
49	chr15:72779800-72786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:72780000-72783600	Weak transcription	HUVEC	blood vessel

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