Variant report

Variant	rs7818520
Chromosome Location	chr8:68224797-68224798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68223577..68225930-chr8:68248709..68251621,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10105795	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957381	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap]
rs10957384	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs11774715	0.92[ASN][1000 genomes]
rs11779287	0.92[ASN][1000 genomes]
rs11986169	0.99[ASN][1000 genomes]
rs11995348	0.81[ASN][1000 genomes]
rs12674570	0.88[ASN][1000 genomes]
rs12674848	0.91[ASN][1000 genomes]
rs12675528	0.99[ASN][1000 genomes]
rs12678025	1.00[ASN][1000 genomes]
rs12679614	1.00[ASN][1000 genomes]
rs12681862	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs12682412	0.92[ASN][1000 genomes]
rs13253205	0.87[ASN][1000 genomes]
rs13255070	0.90[ASN][1000 genomes]
rs13264289	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13267015	0.92[ASN][1000 genomes]
rs13270606	0.90[ASN][1000 genomes]
rs13275593	0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs1544986	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs17425781	0.85[ASN][1000 genomes]
rs1821026	1.00[ASN][1000 genomes]
rs2116130	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28640047	1.00[ASN][1000 genomes]
rs34132973	0.91[ASN][1000 genomes]
rs34345865	0.88[ASN][1000 genomes]
rs34711984	0.88[ASN][1000 genomes]
rs35480743	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs35754047	0.92[ASN][1000 genomes]
rs35904049	0.99[ASN][1000 genomes]
rs56186469	1.00[ASN][1000 genomes]
rs57179217	0.87[ASN][1000 genomes]
rs60196076	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472297	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs68086555	0.90[ASN][1000 genomes]
rs6987724	0.99[ASN][1000 genomes]
rs6992604	0.82[ASN][1000 genomes]
rs6993324	1.00[ASN][1000 genomes]
rs7002191	0.91[ASN][1000 genomes]
rs7002622	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7013561	0.92[ASN][1000 genomes]
rs718348	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs72654960	1.00[ASN][1000 genomes]
rs7464980	0.92[ASN][1000 genomes]
rs7812777	0.99[ASN][1000 genomes]
rs7812887	0.91[ASN][1000 genomes]
rs7813810	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820370	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823436	1.00[ASN][1000 genomes]
rs7830183	0.97[ASN][1000 genomes]
rs7841468	0.92[ASN][1000 genomes]
rs7841756	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7844125	1.00[ASN][1000 genomes]

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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7818520	C8orf34	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
4	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
5	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
6	chr8:68208800-68226000	Weak transcription	A549	lung
7	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
8	chr8:68210800-68225600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:68210800-68225800	Weak transcription	K562	blood
10	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
11	chr8:68212000-68225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:68212200-68225800	Weak transcription	Spleen	Spleen
13	chr8:68212200-68229000	Weak transcription	HepG2	liver
14	chr8:68212400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:68212800-68225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
17	chr8:68213000-68225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:68213000-68225800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:68213200-68229000	Weak transcription	Small Intestine	intestine
20	chr8:68213400-68225600	Weak transcription	Brain Germinal Matrix	brain
21	chr8:68213600-68225000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:68213600-68225200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:68213600-68225600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:68213600-68225800	Weak transcription	Pancreas	Pancrea
25	chr8:68213800-68224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:68213800-68225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:68213800-68225200	Weak transcription	Dnd41	blood
28	chr8:68213800-68225400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:68213800-68225400	Weak transcription	Placenta	Placenta
30	chr8:68213800-68225600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:68214000-68225400	Weak transcription	Adipose Nuclei	Adipose
32	chr8:68214000-68225600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:68214000-68228200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:68214000-68234600	Weak transcription	HMEC	breast
35	chr8:68214400-68225400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:68214400-68225400	Weak transcription	Lung	lung
37	chr8:68214400-68227600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:68214400-68228600	Weak transcription	Ovary	ovary
39	chr8:68215200-68225800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:68218600-68225800	Weak transcription	Gastric	stomach
41	chr8:68218600-68226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:68219200-68225600	Weak transcription	Psoas Muscle	Psoas
44	chr8:68219400-68225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:68219800-68225400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:68220200-68225400	Weak transcription	Fetal Heart	heart
47	chr8:68220200-68226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:68220200-68229000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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