Variant report

Variant	rs9286249
Chromosome Location	chr8:86385082-86385083
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	chr8:86383914..86386781-chr8:86392186..86393964,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10087278	0.91[EUR][1000 genomes]
rs10088136	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10091566	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10095352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10111039	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504812	0.84[ASN][1000 genomes]
rs10504813	0.88[ASN][1000 genomes]
rs10907474	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11261474	0.81[EUR][1000 genomes]
rs11780285	0.84[ASN][1000 genomes]
rs11985029	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11985733	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12550814	0.81[EUR][1000 genomes]
rs1390712	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1493302	0.83[ASN][1000 genomes]
rs1543852	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1845253	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1908075	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs20571	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2307075	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087782	0.80[ASN][1000 genomes]
rs3758076	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758077	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758078	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4566	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55641432	0.80[ASN][1000 genomes]
rs55929157	0.80[ASN][1000 genomes]
rs58958691	0.84[ASN][1000 genomes]
rs67824746	0.80[ASN][1000 genomes]
rs6988475	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016369	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs703	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7386162	0.84[ASN][1000 genomes]
rs9329911	0.86[AFR][1000 genomes]
rs955007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9987281	0.82[ASN][1000 genomes]
rs999466	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9286249	CA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
3	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
4	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
6	chr8:86377800-86388200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:86377800-86388400	Weak transcription	Lung	lung
8	chr8:86377800-86390200	Weak transcription	HMEC	breast
9	chr8:86378000-86385600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:86378000-86386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:86378000-86388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:86378200-86387600	Weak transcription	NHEK	skin
16	chr8:86378200-86388400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:86378200-86389400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:86378200-86390600	Weak transcription	Brain Germinal Matrix	brain
19	chr8:86378600-86387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:86379600-86387600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:86380600-86385400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:86380600-86386600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:86380600-86388600	Weak transcription	Fetal Stomach	stomach
26	chr8:86380600-86389400	Weak transcription	Colonic Mucosa	Colon
27	chr8:86380800-86385600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:86381000-86385600	Weak transcription	Right Atrium	heart
29	chr8:86381000-86386400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:86381000-86387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:86381000-86387000	Weak transcription	Left Ventricle	heart
32	chr8:86381000-86388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:86381000-86389200	Weak transcription	Gastric	stomach
34	chr8:86381000-86389200	Weak transcription	Pancreas	Pancrea
35	chr8:86382400-86385600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:86382400-86386000	Enhancers	Liver	Liver
37	chr8:86382400-86386200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:86382400-86386200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:86382400-86386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:86382600-86385200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:86382600-86385400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:86382600-86385400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:86382600-86386000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:86382600-86386200	Weak transcription	Fetal Kidney	kidney
45	chr8:86382600-86386200	Weak transcription	Fetal Lung	lung
46	chr8:86383800-86385400	Weak transcription	Brain Substantia Nigra	brain
47	chr8:86384200-86385400	Enhancers	Brain Angular Gyrus	brain
48	chr8:86384200-86385600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:86384200-86386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:86384200-86393200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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