Variant report

Variant	rs7708831
Chromosome Location	chr5:112933202-112933203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10053341	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs10056194	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10065790	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072503	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077431	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11241213	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169748	0.82[EUR][1000 genomes]
rs13171630	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13174075	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13182972	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13362189	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13436825	0.81[ASN][1000 genomes]
rs17331844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388260	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17389165	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs1816062	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2162841	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972689	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972690	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33992630	0.86[ASN][1000 genomes]
rs34147627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34324763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34682492	0.81[ASN][1000 genomes]
rs348928	0.86[CHB][hapmap]
rs348929	0.86[CHB][hapmap]
rs348930	0.86[CHB][hapmap]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs348947	0.86[CHB][hapmap]
rs348956	0.86[CHB][hapmap]
rs348961	0.86[CHB][hapmap]
rs348962	0.86[CHB][hapmap]
rs348963	0.86[CHB][hapmap]
rs35093510	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35193208	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35926701	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35933960	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36023163	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs444322	0.86[CHB][hapmap]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs644154	0.86[CHB][hapmap]
rs6594714	1.00[CHB][hapmap]
rs66540465	0.81[EUR][1000 genomes]
rs66572866	0.85[ASN][1000 genomes]
rs67320720	0.85[ASN][1000 genomes]
rs6867579	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6870401	1.00[CHB][hapmap]
rs6871934	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6872490	0.81[ASN][1000 genomes]
rs6879257	0.82[EUR][1000 genomes]
rs6883102	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6883547	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6887482	1.00[CHB][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs6889489	0.81[ASN][1000 genomes]
rs6890874	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs71577447	0.85[ASN][1000 genomes]
rs71577448	0.85[ASN][1000 genomes]
rs72792189	0.85[ASN][1000 genomes]
rs7706721	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7714221	0.81[ASN][1000 genomes]
rs7714760	1.00[CHB][hapmap]
rs7718203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7734576	0.81[ASN][1000 genomes]
rs8180416	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326890	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
2	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
5	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
7	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
10	chr5:112910800-112934600	Weak transcription	Gastric	stomach
11	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
12	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
13	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
17	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
18	chr5:112917200-112942000	Weak transcription	K562	blood
19	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
20	chr5:112917800-112933400	Weak transcription	Brain Angular Gyrus	brain
21	chr5:112918000-112933600	Weak transcription	Hela-S3	cervix
22	chr5:112918000-112939000	Weak transcription	NHEK	skin
23	chr5:112920400-112939000	Weak transcription	HMEC	breast
24	chr5:112920600-112934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:112920600-112934800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
27	chr5:112920800-112934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:112920800-112942000	Weak transcription	Ovary	ovary
30	chr5:112922000-112933400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:112923600-112933600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:112926400-112933400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:112926800-112933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112927000-112936600	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
36	chr5:112927800-112934800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:112927800-112939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:112928200-112933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:112928200-112934200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:112928200-112936600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112928800-112937800	Weak transcription	Osteobl	bone
42	chr5:112929000-112933400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:112929000-112933400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:112929000-112934400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:112929200-112935000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:112929200-112935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:112929600-112934400	Weak transcription	Fetal Thymus	thymus
49	chr5:112929800-112936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:112929800-112942000	Weak transcription	NH-A	brain

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