Variant report

Variant	rs11630572
Chromosome Location	chr15:73448331-73448332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73426527..73428787-chr15:73446978..73449108,2	MCF-7	breast:
2	chr15:73440487..73443797-chr15:73445568..73450386,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11629605	1.00[ASN][1000 genomes]
rs11629919	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630240	1.00[ASN][1000 genomes]
rs11630441	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11630460	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11630633	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631651	1.00[ASN][1000 genomes]
rs11632079	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11632354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634550	1.00[ASN][1000 genomes]
rs11634898	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635682	1.00[ASN][1000 genomes]
rs11635686	1.00[ASN][1000 genomes]
rs11635910	1.00[ASN][1000 genomes]
rs11636411	1.00[ASN][1000 genomes]
rs11636462	1.00[ASN][1000 genomes]
rs11637722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639277	1.00[ASN][1000 genomes]
rs11856233	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11857768	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902056	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12908199	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12909882	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910852	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913381	0.90[AMR][1000 genomes]
rs12914663	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34160980	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34182754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34291790	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355572	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34427117	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34431223	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34649871	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35031381	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35082203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35133756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660974	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767004	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35768298	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36045491	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66473967	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68000913	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68139669	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397276	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71397277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72741411	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72741417	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72741432	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495433	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8024434	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027745	1.00[ASN][1000 genomes]
rs8029474	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032565	1.00[ASN][1000 genomes]
rs8035424	1.00[ASN][1000 genomes]
rs8037213	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8039439	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039533	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8039640	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv527236	chr15:73421239-73469535	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73414400-73458200	Weak transcription	Colonic Mucosa	Colon
3	chr15:73416000-73453200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:73416800-73448800	Weak transcription	Ovary	ovary
5	chr15:73423400-73448800	Weak transcription	Pancreas	Pancrea
6	chr15:73424200-73449200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:73429000-73456600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:73429200-73449200	Weak transcription	Gastric	stomach
9	chr15:73430200-73466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:73431800-73453800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:73432600-73448600	Weak transcription	Fetal Brain Male	brain
12	chr15:73435800-73448800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:73443600-73456600	Weak transcription	Fetal Kidney	kidney
14	chr15:73445000-73448600	Weak transcription	Lung	lung
15	chr15:73445600-73448400	Weak transcription	Fetal Stomach	stomach
16	chr15:73445600-73448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:73445600-73457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:73446000-73449000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:73446400-73450000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:73446600-73448600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:73446600-73448800	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr15:73446800-73448600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:73446800-73449200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr15:73447000-73449000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr15:73447000-73449000	ZNF genes & repeats	Fetal Lung	lung
26	chr15:73447200-73470000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:73447600-73457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:73447600-73457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:73447800-73458000	Weak transcription	Brain Angular Gyrus	brain
30	chr15:73448000-73457000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:73448000-73469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:73448200-73448800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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