Variant report

Variant	rs10078214
Chromosome Location	chr5:112915702-112915703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10051115	0.86[CHB][hapmap]
rs10053341	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs10056194	0.98[ASN][1000 genomes]
rs10061462	1.00[CHB][hapmap]
rs10065790	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071684	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072503	0.86[ASN][1000 genomes]
rs10077431	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11241213	0.93[ASN][1000 genomes]
rs13154300	0.86[CHB][hapmap]
rs13171630	0.95[ASN][1000 genomes]
rs13174075	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13174206	1.00[CHB][hapmap]
rs13180516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13181534	1.00[CHB][hapmap]
rs13181732	1.00[CHB][hapmap]
rs13182972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13362189	0.86[ASN][1000 genomes]
rs13436825	0.95[ASN][1000 genomes]
rs17327964	1.00[CHB][hapmap]
rs17331844	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388260	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17389165	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1816062	0.95[ASN][1000 genomes]
rs2162841	0.95[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.86[ASN][1000 genomes]
rs2972689	0.86[ASN][1000 genomes]
rs2972690	0.86[ASN][1000 genomes]
rs33992630	1.00[ASN][1000 genomes]
rs34147627	0.86[ASN][1000 genomes]
rs34324763	0.86[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	0.90[ASN][1000 genomes]
rs35926701	0.95[ASN][1000 genomes]
rs35933960	0.95[ASN][1000 genomes]
rs36023163	0.95[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]
rs6594735	0.86[YRI][hapmap]
rs66572866	0.81[ASN][1000 genomes]
rs67320720	0.81[ASN][1000 genomes]
rs6867579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6870401	1.00[CHB][hapmap]
rs6871934	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6872490	0.86[ASN][1000 genomes]
rs6883102	1.00[CHB][hapmap]
rs6883547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886199	0.86[YRI][hapmap]
rs6887482	1.00[CHB][hapmap]
rs6889489	0.86[ASN][1000 genomes]
rs6890874	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs71577447	0.81[ASN][1000 genomes]
rs71577448	0.81[ASN][1000 genomes]
rs72792189	0.90[ASN][1000 genomes]
rs7706721	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7708831	0.86[ASN][1000 genomes]
rs7714221	0.86[ASN][1000 genomes]
rs7714760	1.00[CHB][hapmap]
rs7718203	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718616	1.00[CHB][hapmap]
rs7729269	1.00[CHB][hapmap]
rs7731231	0.86[CHB][hapmap]
rs8180416	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9326890	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9326891	0.89[CEU][hapmap]

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	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

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	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:112899400-112929400	Weak transcription	HepG2	liver
9	chr5:112900400-112915800	Weak transcription	HUVEC	blood vessel
10	chr5:112903000-112917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:112904400-112917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
13	chr5:112904800-112916200	Weak transcription	Fetal Heart	heart
14	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:112908800-112916000	Weak transcription	Fetal Brain Male	brain
16	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:112910400-112917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:112910600-112915800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112910600-112915800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:112910600-112916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:112910600-112917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:112910600-112917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:112910600-112917000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:112910600-112919800	Weak transcription	NHDF-Ad	bronchial
25	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
26	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
31	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
33	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112910800-112915800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:112910800-112917000	Weak transcription	NHEK	skin
36	chr5:112910800-112919800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:112910800-112919800	Weak transcription	HMEC	breast
38	chr5:112910800-112920000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:112910800-112928400	Weak transcription	A549	lung
42	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
44	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
48	chr5:112910800-112934600	Weak transcription	Gastric	stomach
49	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
50	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus

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