Variant report

Variant	rs12678305
Chromosome Location	chr8:95521139-95521140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95484689..95488036-chr8:95515578..95521177,5	K562	blood:
2	chr8:95520876..95523333-chr8:95528954..95531055,2	MCF-7	breast:
3	chr8:95516824..95519070-chr8:95519819..95522631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10104041	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111287	0.98[ASN][1000 genomes]
rs1023767	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055800	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956915	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956919	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11986009	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540967	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12541408	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12543207	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543730	0.97[ASN][1000 genomes]
rs12679345	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680842	0.96[ASN][1000 genomes]
rs12680855	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12680965	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681564	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470153	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916881	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992370	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304764	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381882	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381885	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28729295	0.99[ASN][1000 genomes]
rs28817653	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4269508	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4366055	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373498	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735297	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55897841	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56042558	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56716157	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60655325	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674832	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674843	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674852	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674855	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674861	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674866	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674867	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72674877	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7829886	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs957447	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957448	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	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
rs12678305	KIAA1429	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
7	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:95500400-95524600	Weak transcription	Stomach Mucosa	stomach
9	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:95504000-95521800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:95504000-95522000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:95504400-95523400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95505600-95521600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:95506000-95522000	Weak transcription	HMEC	breast
15	chr8:95508800-95522600	Weak transcription	Brain Substantia Nigra	brain
16	chr8:95509000-95522000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:95509600-95522000	Weak transcription	NHEK	skin
18	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
19	chr8:95511200-95527400	Weak transcription	Gastric	stomach
20	chr8:95511200-95530600	Weak transcription	Aorta	Aorta
21	chr8:95511600-95522600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:95511800-95521200	Weak transcription	HepG2	liver
23	chr8:95512200-95522000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:95512600-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:95512600-95527800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95513000-95521800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:95513600-95530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:95515000-95527600	Weak transcription	Ovary	ovary
29	chr8:95515600-95521800	Weak transcription	Fetal Kidney	kidney
30	chr8:95515600-95534200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:95516200-95534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
33	chr8:95517200-95523000	Weak transcription	Colonic Mucosa	Colon
34	chr8:95517200-95530400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:95517400-95527600	Weak transcription	Spleen	Spleen
36	chr8:95517400-95528000	Weak transcription	Right Ventricle	heart
37	chr8:95517600-95522400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:95517600-95522600	Weak transcription	Lung	lung
39	chr8:95517600-95522600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
41	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:95517800-95521600	Weak transcription	Fetal Brain Female	brain
43	chr8:95517800-95522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:95518000-95521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:95518000-95522400	Weak transcription	Left Ventricle	heart
46	chr8:95518000-95530600	Weak transcription	Small Intestine	intestine
47	chr8:95518000-95534000	Weak transcription	Psoas Muscle	Psoas
48	chr8:95518600-95522600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:95518600-95523600	Weak transcription	NHLF	lung
50	chr8:95518800-95521200	Weak transcription	Colon Smooth Muscle	Colon

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