Variant report

Variant	rs2046017
Chromosome Location	chr15:73524629-73524630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73518381..73521603-chr15:73524397..73526863,3	K562	blood:
2	chr15:73523932..73526335-chr15:73528553..73530917,2	K562	blood:
3	chr15:73518381..73521870-chr15:73524452..73526863,3	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10048053	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1023924	0.86[CHD][hapmap]
rs10438294	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10467949	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs11072406	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11072409	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1131854	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11632639	0.94[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap]
rs11633469	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11636241	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11639213	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12050774	0.83[CHD][hapmap]
rs12050848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12708506	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12899246	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs12902768	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12907139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916928	0.83[EUR][1000 genomes]
rs1479337	0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1479339	0.82[CHB][hapmap]
rs1479340	0.89[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs1564345	0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs17762516	0.90[ASN][1000 genomes]
rs17762600	0.86[CHD][hapmap]
rs17829830	0.86[CHD][hapmap]
rs17829836	0.92[ASN][1000 genomes]
rs1871385	0.92[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2010793	0.83[ASN][1000 genomes]
rs2127277	0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs2194924	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251205	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415147	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2660821	0.81[TSI][hapmap]
rs2899784	0.88[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs34013312	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35450875	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736510	0.92[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3743489	0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3784793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784796	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4132535	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap]
rs4132536	0.83[CHD][hapmap]
rs4381562	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776630	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4777582	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs4777583	0.83[EUR][1000 genomes]
rs4777589	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4777590	0.86[CHD][hapmap]
rs4777591	0.94[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs56157337	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58060856	0.89[ASN][1000 genomes]
rs62017779	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495047	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs7164894	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs7169083	0.89[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs7172021	0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7172396	0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7175329	0.94[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs747872	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs747873	0.89[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8024575	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8026579	0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs8027588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8029106	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8035063	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8035925	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8040516	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8042700	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs922516	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs9672588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806496	0.94[ASN][1000 genomes]
rs9920186	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap]
rs9972523	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73493400-73528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:73497800-73541800	Weak transcription	Fetal Kidney	kidney
3	chr15:73509400-73525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:73509600-73528800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:73516600-73528200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:73516800-73528600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:73517600-73528400	Weak transcription	Fetal Lung	lung
8	chr15:73518200-73528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:73518200-73540800	Weak transcription	Colonic Mucosa	Colon
10	chr15:73518400-73531800	Weak transcription	Aorta	Aorta
11	chr15:73518600-73524800	Weak transcription	Lung	lung
12	chr15:73518600-73525000	Weak transcription	Brain Angular Gyrus	brain
13	chr15:73518600-73528600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:73518600-73528600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:73518600-73528800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr15:73518600-73529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:73518600-73534000	Weak transcription	Right Ventricle	heart
18	chr15:73518800-73524800	Weak transcription	Fetal Intestine Large	intestine
19	chr15:73518800-73526400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:73518800-73546200	Weak transcription	Psoas Muscle	Psoas
21	chr15:73518800-73547800	Weak transcription	Left Ventricle	heart
22	chr15:73520400-73528400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:73520400-73528600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:73520400-73528600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:73520400-73562400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:73520600-73579600	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:73520800-73536400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:73521600-73526000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:73523000-73526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:73523000-73572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:73523200-73525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:73523200-73526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:73523200-73547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:73523600-73525200	Strong transcription	Fetal Intestine Small	intestine
35	chr15:73523800-73524800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr15:73523800-73524800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:73523800-73525200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr15:73523800-73525200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:73523800-73525200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:73523800-73525400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:73523800-73525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:73523800-73525400	Enhancers	Brain Hippocampus Middle	brain
43	chr15:73523800-73526800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:73523800-73527000	Enhancers	Brain Cingulate Gyrus	brain
45	chr15:73523800-73530200	Weak transcription	Adipose Nuclei	Adipose
46	chr15:73524000-73524800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:73524000-73525000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:73524000-73525000	Enhancers	Osteobl	bone
49	chr15:73524000-73525200	Enhancers	Stomach Mucosa	stomach
50	chr15:73524000-73525200	Enhancers	NHDF-Ad	bronchial

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