Variant report

Variant	rs8030499
Chromosome Location	chr15:72784808-72784809
allele	A/G
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	chr15:72765013..72768991-chr15:72777549..72785933,11	MCF-7	breast:
2	chr15:72779498..72781540-chr15:72782619..72785012,4	K562	blood:
3	chr15:72769981..72772398-chr15:72784193..72786269,2	MCF-7	breast:
4	chr15:72777447..72780290-chr15:72783902..72787727,3	MCF-7	breast:
5	chr15:72767452..72769709-chr15:72782732..72785148,2	K562	blood:
6	chr15:72774175..72776020-chr15:72783050..72785944,2	MCF-7	breast:
7	chr15:72773245..72779445-chr15:72780758..72788014,8	K562	blood:
8	chr15:72765591..72767580-chr15:72783161..72786899,5	K562	blood:
9	chr15:72779569..72781294-chr15:72784265..72786858,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10744963	0.82[AMR][1000 genomes]
rs10775206	0.86[AFR][1000 genomes]
rs10851858	0.87[ASW][hapmap];0.81[MEX][hapmap]
rs11072379	0.84[AFR][1000 genomes]
rs1133316	0.93[ASW][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes]
rs11631125	0.80[AMR][1000 genomes]
rs11636825	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11637103	0.80[AMR][1000 genomes]
rs11855682	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12148733	0.91[ASN][1000 genomes]
rs12908610	0.80[AMR][1000 genomes]
rs12912445	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915048	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1374092	0.80[AMR][1000 genomes]
rs2278694	0.87[ASW][hapmap]
rs2415135	0.81[ASW][hapmap]
rs2415141	0.81[MEX][hapmap]
rs4146285	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4776601	0.80[AMR][1000 genomes]
rs4777512	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4777513	1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7495835	0.82[AFR][1000 genomes]
rs7496556	0.87[ASW][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7497390	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7497793	0.82[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8030499	ANP32A	cis	cerebellum	SCAN
rs8030499	IQCH	cis	cerebellum	SCAN

Chromatin state (count:116 , 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	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:72770000-72786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:72770200-72788600	Weak transcription	Brain Germinal Matrix	brain
9	chr15:72771400-72792000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:72772000-72792000	Weak transcription	Placenta	Placenta
12	chr15:72772200-72791800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:72772200-72794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:72772400-72791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
16	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:72774000-72785000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:72774000-72796000	Weak transcription	Fetal Stomach	stomach
20	chr15:72774200-72786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:72774200-72794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:72775600-72788400	Weak transcription	Aorta	Aorta
23	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:72775800-72785200	Weak transcription	Brain Angular Gyrus	brain
25	chr15:72775800-72788400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:72775800-72796000	Weak transcription	Esophagus	oesophagus
27	chr15:72776000-72792000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:72777400-72786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:72777400-72790000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:72777800-72792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:72778600-72786600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr15:72779400-72787200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr15:72779600-72785800	Enhancers	Adipose Nuclei	Adipose
34	chr15:72779800-72786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:72780000-72786400	Weak transcription	Fetal Heart	heart
36	chr15:72780000-72794400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:72780400-72812400	Weak transcription	HepG2	liver
38	chr15:72780800-72785400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:72780800-72790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:72781400-72786000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr15:72781400-72787000	Weak transcription	Right Ventricle	heart
42	chr15:72781400-72789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:72781400-72791800	Weak transcription	Dnd41	blood
44	chr15:72781600-72785400	Weak transcription	Right Atrium	heart
45	chr15:72781600-72787400	Weak transcription	Lung	lung
46	chr15:72781600-72788200	Weak transcription	Fetal Intestine Small	intestine
47	chr15:72781600-72788200	Weak transcription	Ovary	ovary
48	chr15:72781800-72785600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr15:72781800-72790400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr15:72782000-72786600	Weak transcription	GM12878-XiMat	blood

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