Variant report

Variant	rs13264289
Chromosome Location	chr8:68246855-68246856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68244078..68246525-chr8:68246829..68250108,3	MCF-7	breast:
2	chr8:68241911..68248311-chr8:68249689..68253329,8	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10105795	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957384	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11774715	0.87[ASN][1000 genomes]
rs11779044	0.80[EUR][1000 genomes]
rs11779287	0.87[ASN][1000 genomes]
rs11986169	0.96[ASN][1000 genomes]
rs11995348	0.84[ASN][1000 genomes]
rs12674570	0.83[ASN][1000 genomes]
rs12674848	0.86[ASN][1000 genomes]
rs12675528	0.96[ASN][1000 genomes]
rs12678025	0.95[ASN][1000 genomes]
rs12679614	0.95[ASN][1000 genomes]
rs12681292	0.82[ASN][1000 genomes]
rs12682412	0.87[ASN][1000 genomes]
rs13253205	0.90[ASN][1000 genomes]
rs13255070	0.86[ASN][1000 genomes]
rs13267015	0.87[ASN][1000 genomes]
rs13270606	0.90[ASN][1000 genomes]
rs13275593	0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544986	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs17425781	0.80[ASN][1000 genomes]
rs1821026	0.95[ASN][1000 genomes]
rs2116130	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28640047	0.95[ASN][1000 genomes]
rs34132973	0.88[ASN][1000 genomes]
rs34345865	0.83[ASN][1000 genomes]
rs34711984	0.83[ASN][1000 genomes]
rs35480743	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs35754047	0.87[ASN][1000 genomes]
rs35904049	0.96[ASN][1000 genomes]
rs56186469	0.95[ASN][1000 genomes]
rs57179217	0.82[ASN][1000 genomes]
rs60196076	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6472297	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs68086555	0.86[ASN][1000 genomes]
rs6987724	0.96[ASN][1000 genomes]
rs6992604	0.83[ASN][1000 genomes]
rs6993324	0.95[ASN][1000 genomes]
rs7002191	0.88[ASN][1000 genomes]
rs7002622	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7013561	0.97[ASN][1000 genomes]
rs718348	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs72654960	0.95[ASN][1000 genomes]
rs7464980	0.87[ASN][1000 genomes]
rs7812777	0.96[ASN][1000 genomes]
rs7812887	0.88[ASN][1000 genomes]
rs7813810	0.96[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];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818520	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7820370	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822637	0.81[ASN][1000 genomes]
rs7823436	0.95[ASN][1000 genomes]
rs7830183	0.96[ASN][1000 genomes]
rs7841468	0.87[ASN][1000 genomes]
rs7841756	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7844125	0.95[ASN][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	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
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13264289	C8orf34	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
2	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
3	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
7	chr8:68220400-68251800	Weak transcription	NHLF	lung
8	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
9	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
11	chr8:68226400-68248800	Weak transcription	Fetal Lung	lung
12	chr8:68226400-68250200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
15	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:68226400-68252800	Weak transcription	NHEK	skin
17	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
19	chr8:68226600-68248600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:68226600-68250400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:68226800-68248400	Weak transcription	Brain Germinal Matrix	brain
26	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea
29	chr8:68227000-68254600	Weak transcription	Thymus	Thymus
30	chr8:68227200-68248000	Weak transcription	Fetal Stomach	stomach
31	chr8:68227200-68251400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:68227200-68251400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:68227400-68248400	Weak transcription	Dnd41	blood
34	chr8:68227400-68250400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:68227400-68254600	Weak transcription	Lung	lung
36	chr8:68229600-68248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:68229600-68248400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:68229600-68248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:68229600-68251400	Weak transcription	HSMM	muscle
40	chr8:68229600-68252600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:68229600-68252600	Weak transcription	Small Intestine	intestine
42	chr8:68229800-68248400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:68229800-68248400	Weak transcription	Fetal Thymus	thymus
44	chr8:68229800-68248400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:68230200-68249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:68232200-68254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:68233200-68251600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:68234600-68248200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:68234800-68248400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:68235000-68248000	Weak transcription	Fetal Muscle Leg	muscle

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