Variant report

Variant	rs12678264
Chromosome Location	chr8:39913780-39913781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:39897663..39901671-chr8:39911802..39914452,3	MCF-7	breast:
2	chr8:39912165..39914251-chr8:39916476..39919468,4	MCF-7	breast:
3	chr8:39912293..39914150-chr8:40011038..40012708,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10958600	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs13255845	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13265509	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269057	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270586	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270901	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13274781	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13275833	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13277306	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1383603	0.99[ASN][1000 genomes]
rs1471559	0.86[CEU][hapmap]
rs1471561	0.82[EUR][1000 genomes]
rs1481063	0.98[ASN][1000 genomes]
rs1600689	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1600690	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170306	0.86[ASN][1000 genomes]
rs2929095	0.99[ASN][1000 genomes]
rs2981129	0.99[ASN][1000 genomes]
rs2981134	0.89[ASN][1000 genomes]
rs2981136	0.99[ASN][1000 genomes]
rs34865389	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34882203	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35723433	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35905112	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4299988	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59707583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545325	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67207633	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68103082	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814008	0.81[AMR][1000 genomes]
rs7846287	0.86[EUR][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39907600-39919000	Enhancers	HepG2	liver
2	chr8:39908400-39914000	Enhancers	Fetal Intestine Small	intestine
3	chr8:39910000-39914200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:39911200-39914200	Enhancers	Fetal Intestine Large	intestine
5	chr8:39911400-39914200	Enhancers	Stomach Mucosa	stomach
6	chr8:39911600-39914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:39911800-39914200	Enhancers	Brain Angular Gyrus	brain
8	chr8:39911800-39914200	Enhancers	Brain Substantia Nigra	brain
9	chr8:39912000-39914200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:39912400-39913800	Enhancers	Brain Anterior Caudate	brain
11	chr8:39912600-39913800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:39912600-39914000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:39912600-39914200	Enhancers	Brain Hippocampus Middle	brain
14	chr8:39912800-39917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:39912800-39917400	Weak transcription	NHLF	lung
16	chr8:39912800-39917600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:39912800-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:39913000-39914000	Weak transcription	Fetal Kidney	kidney
19	chr8:39913000-39914200	Enhancers	Liver	Liver
20	chr8:39913000-39916400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:39913000-39916400	Weak transcription	Esophagus	oesophagus
22	chr8:39913000-39917000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
24	chr8:39913200-39914000	Enhancers	Hela-S3	cervix
25	chr8:39913200-39916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:39913200-39916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:39913200-39916400	Weak transcription	Lung	lung
28	chr8:39913200-39916800	Weak transcription	Fetal Lung	lung
29	chr8:39913400-39914000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:39913400-39914200	Enhancers	A549	lung
31	chr8:39913400-39916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:39913400-39917600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:39913400-39919400	Weak transcription	Aorta	Aorta
34	chr8:39913600-39914600	Weak transcription	Pancreas	Pancrea
35	chr8:39913600-39916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:39913600-39916400	Weak transcription	Colonic Mucosa	Colon
37	chr8:39913600-39916400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:39913600-39916400	Weak transcription	Small Intestine	intestine

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