Variant report

Variant	rs7701895
Chromosome Location	chr5:112613458-112613459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10038521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10051115	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10053341	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10061462	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs10434754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10477490	0.83[ASN][1000 genomes]
rs1157696	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154300	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13159509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13164135	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13164326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13170435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171482	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13174075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13174151	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13174206	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13177853	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13180516	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13180522	0.83[ASN][1000 genomes]
rs13181534	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13181732	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[ASN][1000 genomes]
rs13181944	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13183383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13184538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13187823	0.88[ASN][1000 genomes]
rs13189050	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs13189910	0.83[ASN][1000 genomes]
rs17325307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17325503	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17325825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17327964	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[ASN][1000 genomes]
rs17388260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17389165	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1838206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1922678	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1922679	0.89[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs34316732	0.83[ASN][1000 genomes]
rs34558181	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34682492	0.83[ASN][1000 genomes]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs34951736	0.88[ASN][1000 genomes]
rs35359071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35886114	0.83[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs4438866	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs58268366	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644154	0.86[CHB][hapmap]
rs6594698	0.87[EUR][1000 genomes]
rs6594706	0.83[ASN][1000 genomes]
rs6594713	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs6594714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6594715	0.83[ASN][1000 genomes]
rs6594716	0.83[ASN][1000 genomes]
rs66572866	0.88[ASN][1000 genomes]
rs67320720	0.88[ASN][1000 genomes]
rs67693032	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6870401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6871934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6872490	0.83[ASN][1000 genomes]
rs6874175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6880562	0.88[ASN][1000 genomes]
rs6883102	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6887482	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs6887914	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6889489	0.83[ASN][1000 genomes]
rs6890874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6896843	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs71577442	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71577447	0.88[ASN][1000 genomes]
rs71577448	0.88[ASN][1000 genomes]
rs7709646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7714221	0.83[ASN][1000 genomes]
rs7714760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7717630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7718616	0.82[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[ASN][1000 genomes]
rs7720414	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7725712	0.83[ASN][1000 genomes]
rs7727056	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7727501	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7729269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7731231	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7734576	0.83[ASN][1000 genomes]
rs7737512	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7701895	CAMK4	cis	parietal	SCAN
rs7701895	MCC	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
4	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112606600-112614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:112607200-112614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:112607600-112616200	Weak transcription	Esophagus	oesophagus
9	chr5:112608000-112628200	Weak transcription	HMEC	breast
10	chr5:112609600-112614800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112610800-112616400	Weak transcription	Spleen	Spleen
13	chr5:112610800-112623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112611000-112614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:112611000-112614200	Weak transcription	NH-A	brain
16	chr5:112611000-112614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112611000-112614800	Weak transcription	NHEK	skin
18	chr5:112611000-112616600	Weak transcription	Psoas Muscle	Psoas
19	chr5:112611000-112618000	Weak transcription	Fetal Stomach	stomach
20	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:112611200-112618000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:112611400-112614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:112611400-112616400	Weak transcription	Adipose Nuclei	Adipose
24	chr5:112611400-112616400	Weak transcription	HUVEC	blood vessel
25	chr5:112612000-112613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:112612000-112613800	Weak transcription	Right Atrium	heart
27	chr5:112612000-112613800	Weak transcription	Right Ventricle	heart
28	chr5:112612000-112614400	Weak transcription	HSMMtube	muscle
29	chr5:112612000-112616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112612000-112616600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:112612000-112618000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:112612000-112623800	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:112612000-112625200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:112612200-112613800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112612200-112613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:112612200-112616400	Weak transcription	Liver	Liver
37	chr5:112612200-112616800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:112612200-112616800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:112612200-112617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:112612200-112625200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:112612400-112613800	Weak transcription	Fetal Heart	heart
42	chr5:112612400-112614000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:112612400-112615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:112612400-112615400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:112612400-112616400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:112612400-112617000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:112612400-112617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:112612400-112618400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:112612600-112613600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:112612600-112613600	Weak transcription	Left Ventricle	heart

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