Variant report

Variant	rs6982308
Chromosome Location	chr8:10193772-10193773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17708276	0.88[ASN][1000 genomes]
rs17709397	0.84[ASN][1000 genomes]
rs17765901	0.84[ASN][1000 genomes]
rs28406568	0.92[ASN][1000 genomes]
rs28507213	0.84[ASN][1000 genomes]
rs28712068	0.84[ASN][1000 genomes]
rs4433149	0.84[ASN][1000 genomes]
rs4841317	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55768139	0.96[ASN][1000 genomes]
rs6601427	0.83[AMR][1000 genomes]
rs6601443	0.92[ASN][1000 genomes]
rs73195303	0.96[ASN][1000 genomes]
rs7818437	0.96[ASN][1000 genomes]
rs7832708	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7838901	0.92[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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6982308	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs6982308	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192400-10196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10192600-10193800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:10192600-10206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:10192600-10282400	Weak transcription	Gastric	stomach
5	chr8:10192800-10194200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:10192800-10194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:10192800-10194600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:10192800-10195600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:10192800-10197600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:10192800-10197800	Enhancers	Fetal Brain Male	brain
11	chr8:10192800-10206400	Weak transcription	Thymus	Thymus
12	chr8:10193000-10194600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:10193000-10195600	Weak transcription	Liver	Liver
14	chr8:10193000-10196400	Weak transcription	HepG2	liver
15	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
17	chr8:10193200-10196800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:10193200-10203800	Weak transcription	Right Atrium	heart
19	chr8:10193400-10193800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:10193400-10193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:10193400-10194200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:10193400-10195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:10193400-10195600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:10193400-10195600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:10193400-10198800	Weak transcription	NHEK	skin
26	chr8:10193400-10202400	Weak transcription	Right Ventricle	heart
27	chr8:10193600-10194000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:10193600-10194000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:10193600-10194200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:10193600-10194600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:10193600-10195000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:10193600-10195200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:10193600-10195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:10193600-10195400	Enhancers	Brain Germinal Matrix	brain
35	chr8:10193600-10195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:10193600-10195800	Weak transcription	Brain Substantia Nigra	brain
37	chr8:10193600-10195800	Weak transcription	Fetal Thymus	thymus
38	chr8:10193600-10196000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:10193600-10196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:10193600-10196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:10193600-10196400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:10193600-10196600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:10193600-10196600	Enhancers	Fetal Brain Female	brain
44	chr8:10193600-10196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:10193600-10197400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:10193600-10197800	Weak transcription	Primary T cells from cord blood	blood
47	chr8:10193600-10198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:10193600-10199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:10193600-10200600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:10193600-10202800	Weak transcription	Brain Anterior Caudate	brain

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