Variant report

Variant	rs7718203
Chromosome Location	chr5:112910083-112910084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10051115	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs10053341	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056194	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061462	1.00[CHB][hapmap]
rs10065790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072503	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10077431	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241213	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154300	1.00[CHB][hapmap]
rs13169748	0.90[EUR][1000 genomes]
rs13171630	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13174075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13174206	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13180516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13181534	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs13181732	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13182972	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13362189	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13436825	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17327964	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17331844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388260	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17389165	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1816062	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162841	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248930	0.85[CHB][hapmap]
rs2914198	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972689	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972690	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33992630	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34147627	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34324763	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs348928	0.85[CHB][hapmap]
rs348929	0.85[CHB][hapmap]
rs348930	0.85[CHB][hapmap]
rs348931	0.85[CHB][hapmap]
rs348932	0.85[CHB][hapmap]
rs348947	0.85[CHB][hapmap]
rs348956	0.85[CHB][hapmap]
rs348961	0.85[CHB][hapmap]
rs348962	0.85[CHB][hapmap]
rs348963	0.85[CHB][hapmap]
rs34951736	0.81[ASN][1000 genomes]
rs35093510	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35193208	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35926701	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35933960	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36023163	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367943	0.85[CHB][hapmap]
rs444322	0.85[CHB][hapmap]
rs455435	0.85[CHB][hapmap]
rs460079	0.85[CHB][hapmap]
rs463167	0.85[CHB][hapmap]
rs463249	0.85[CHB][hapmap]
rs644154	0.85[CHB][hapmap]
rs6594713	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6594714	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs66540465	0.88[EUR][1000 genomes]
rs66572866	0.81[ASN][1000 genomes]
rs67320720	0.81[ASN][1000 genomes]
rs6867579	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6870401	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6871934	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6872490	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879257	0.90[EUR][1000 genomes]
rs6883102	1.00[CHB][hapmap]
rs6883547	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887482	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6887914	1.00[CHB][hapmap]
rs6889489	0.86[ASN][1000 genomes]
rs6890874	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71577447	0.81[ASN][1000 genomes]
rs71577448	0.81[ASN][1000 genomes]
rs72792189	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7706721	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708831	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7714221	0.86[ASN][1000 genomes]
rs7714760	1.00[CHB][hapmap]
rs7718616	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7729269	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs7731231	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs8180416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326891	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
6	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
11	chr5:112892800-112915000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:112894400-112911800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:112894600-112910800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:112895000-112911400	Strong transcription	Dnd41	blood
15	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:112899400-112929400	Weak transcription	HepG2	liver
17	chr5:112900400-112915800	Weak transcription	HUVEC	blood vessel
18	chr5:112901000-112911000	Strong transcription	Fetal Lung	lung
19	chr5:112901000-112911800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:112901400-112910800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:112901400-112911600	Strong transcription	Adipose Nuclei	Adipose
22	chr5:112901800-112911400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:112902200-112911600	Strong transcription	Primary B cells from cord blood	blood
24	chr5:112902800-112910800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:112903000-112917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:112904400-112910200	Weak transcription	GM12878-XiMat	blood
27	chr5:112904400-112917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
29	chr5:112904800-112916200	Weak transcription	Fetal Heart	heart
30	chr5:112906000-112910800	Strong transcription	Fetal Intestine Large	intestine
31	chr5:112906400-112911400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:112906800-112911400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:112907200-112915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:112907400-112915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:112907800-112910800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:112908200-112910600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:112908400-112910600	Strong transcription	Colonic Mucosa	Colon
39	chr5:112908400-112910600	Strong transcription	Placenta	Placenta
40	chr5:112908400-112911400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:112908600-112911000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:112908600-112911400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:112908800-112911400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:112908800-112916000	Weak transcription	Fetal Brain Male	brain
45	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:112909000-112910600	Strong transcription	Colon Smooth Muscle	Colon
47	chr5:112909000-112910800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:112909000-112911800	Strong transcription	Primary T cells from cord blood	blood
49	chr5:112909200-112911200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:112909200-112911400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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