Variant report

Variant	rs971371
Chromosome Location	chr5:112624075-112624076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10519343	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10519345	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10519346	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1116547	0.86[MEX][hapmap]
rs11241197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11241201	0.86[MEX][hapmap]
rs11241206	0.81[MEX][hapmap]
rs11738215	0.81[MEX][hapmap]
rs11740045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740190	0.90[ASN][1000 genomes]
rs11740233	0.90[ASN][1000 genomes]
rs11740318	0.90[ASN][1000 genomes]
rs11740353	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.90[ASN][1000 genomes]
rs11740443	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11741794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11741937	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11743052	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11744606	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs11746532	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11746791	0.90[ASN][1000 genomes]
rs11746821	0.92[ASN][1000 genomes]
rs11748058	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11748465	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11748524	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11749864	1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12186466	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12188069	1.00[CHD][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs12188070	0.87[ASN][1000 genomes]
rs12188230	0.90[ASN][1000 genomes]
rs12518849	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs12520003	1.00[CHB][hapmap]
rs12521391	1.00[CHD][hapmap];0.86[MEX][hapmap]
rs12522862	1.00[CHD][hapmap];0.90[MEX][hapmap]
rs12523027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12523255	0.82[JPT][hapmap]
rs12523284	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13436236	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs17135454	0.90[CHD][hapmap]
rs17135463	1.00[CHD][hapmap];0.86[MEX][hapmap]
rs17135488	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17135506	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17135507	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17135514	0.82[AMR][1000 genomes]
rs17135515	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17135517	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17135519	0.82[AMR][1000 genomes]
rs17135520	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135526	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135531	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135534	0.85[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135542	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1822488	0.80[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs1845289	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1997521	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs2068923	0.90[MEX][hapmap]
rs2091803	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs2091804	0.85[ASN][1000 genomes]
rs34271294	0.92[ASN][1000 genomes]
rs4632792	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4705806	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4705807	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4705808	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4705809	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4705810	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4705811	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705817	0.84[JPT][hapmap]
rs56294433	0.92[ASN][1000 genomes]
rs56362568	0.81[ASN][1000 genomes]
rs59107004	0.90[ASN][1000 genomes]
rs59222257	0.90[ASN][1000 genomes]
rs60087454	0.90[ASN][1000 genomes]
rs60437559	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594695	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594696	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594697	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs66893265	0.90[ASN][1000 genomes]
rs67063423	0.90[ASN][1000 genomes]
rs67373655	0.90[ASN][1000 genomes]
rs67550282	0.90[ASN][1000 genomes]
rs68069850	0.90[ASN][1000 genomes]
rs6864528	0.81[MEX][hapmap]
rs6877524	0.86[MEX][hapmap]
rs6879761	0.90[ASN][1000 genomes]
rs6887565	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.95[ASN][1000 genomes]
rs6888602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73244770	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73244772	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73244779	0.90[ASN][1000 genomes]
rs73246604	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73246629	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73246648	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73246657	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73246677	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246681	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7724707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7724717	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7724936	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs971370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977997	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active 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
7	nsv471785	chr5:112623871-112624212	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112608000-112628200	Weak transcription	HMEC	breast
2	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112612000-112625200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:112612200-112625200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112614200-112625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112615000-112625200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:112617800-112625400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:112617800-112628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:112618400-112628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:112618400-112628200	Weak transcription	Fetal Kidney	kidney
12	chr5:112618400-112628200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112618400-112628400	Weak transcription	Fetal Stomach	stomach
14	chr5:112618600-112625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:112619000-112626800	Weak transcription	Liver	Liver
16	chr5:112619000-112628600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112619000-112628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:112619200-112625600	Weak transcription	Fetal Lung	lung
19	chr5:112619400-112625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:112619600-112625200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:112620000-112628200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:112620000-112628200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:112620400-112625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:112621600-112625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:112622000-112625200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:112622000-112626800	Weak transcription	Right Ventricle	heart
27	chr5:112622400-112624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:112622400-112626800	Weak transcription	Fetal Heart	heart
29	chr5:112622600-112626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:112623400-112624600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112623800-112625200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:112624000-112624800	Weak transcription	Ovary	ovary
33	chr5:112624000-112625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:112624000-112626800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112624000-112626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:112624000-112626800	Weak transcription	Left Ventricle	heart
37	chr5:112624000-112626800	Weak transcription	Right Atrium	heart
38	chr5:112624000-112626800	Weak transcription	NHEK	skin
39	chr5:112624000-112627000	Weak transcription	Psoas Muscle	Psoas
40	chr5:112624000-112628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:112624000-112628600	Weak transcription	Esophagus	oesophagus
42	chr5:112624000-112628800	Weak transcription	Gastric	stomach

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