Variant report

Variant	rs7718810
Chromosome Location	chr5:112368300-112368301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10059599	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12516502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12719155	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs2052484	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2080896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080897	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2112452	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2112453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161244	0.98[ASN][1000 genomes]
rs2416301	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33550	0.94[JPT][hapmap]
rs33553	0.94[JPT][hapmap]
rs33556	0.81[YRI][hapmap]
rs33563	0.94[JPT][hapmap]
rs33565	0.94[JPT][hapmap]
rs3733969	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs3857433	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4260660	0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4705530	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4705532	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4705743	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4705746	0.80[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705751	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs59147465	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59265685	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59664033	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594659	0.94[JPT][hapmap]
rs6892724	0.81[JPT][hapmap]
rs7447818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7721666	0.85[EUR][1000 genomes]
rs878073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs878076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs882253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs888844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs888845	0.98[ASN][1000 genomes]
rs9326869	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs959949	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7718810	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs7718810	MCC	cis	frontal cortex	BrainEAC

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
3	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
4	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
6	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
8	chr5:112363600-112368400	Weak transcription	Psoas Muscle	Psoas
9	chr5:112363600-112368600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:112363600-112379200	Weak transcription	Gastric	stomach
13	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
14	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
15	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
18	chr5:112363800-112376200	Weak transcription	Dnd41	blood
19	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
20	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
23	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:112364000-112368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:112364000-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:112364000-112368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:112364000-112370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
29	chr5:112364000-112374600	Weak transcription	Lung	lung
30	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
31	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:112364200-112370400	Weak transcription	NHEK	skin
33	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:112364400-112368600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
36	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:112364800-112369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:112364800-112370400	Weak transcription	HMEC	breast
39	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
41	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
42	chr5:112365000-112368600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:112365400-112368400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112365400-112368400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:112365400-112371400	Enhancers	NH-A	brain
46	chr5:112365400-112372000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:112365600-112368800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:112365600-112370000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:112365600-112370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112365600-112372000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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