Variant report

Variant	rs12547063
Chromosome Location	chr8:117786616-117786617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117785412..117790239-chr8:117790613..117794443,6	K562	blood:
2	chr8:117784066..117787028-chr8:117794164..117796661,2	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]
rs10094452	0.86[YRI][hapmap]
rs10283122	0.85[YRI][hapmap]
rs10505283	1.00[CEU][hapmap]
rs10505285	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10505288	0.81[ASN][1000 genomes]
rs10808485	0.90[YRI][hapmap]
rs11996147	0.81[ASN][1000 genomes]
rs12541272	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12541592	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12545964	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12548564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343663	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16888615	0.80[YRI][hapmap]
rs16888632	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16888650	0.82[AFR][1000 genomes]
rs16888683	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs16888705	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16888709	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16888721	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2366	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694617	0.94[ASN][1000 genomes]
rs4130879	0.96[AFR][1000 genomes]
rs41339048	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4372028	0.83[YRI][hapmap]
rs4449824	0.83[YRI][hapmap]
rs56316062	0.81[ASN][1000 genomes]
rs764938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7825662	0.85[JPT][hapmap]
rs7833306	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7844973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:117780400-117787200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:117780400-117787200	Weak transcription	Right Ventricle	heart
5	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:117780400-117796000	Weak transcription	Lung	lung
8	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
9	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
10	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
11	chr8:117780600-117787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
16	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
19	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:117781600-117788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:117781600-117792600	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:117781800-117786800	Weak transcription	NHLF	lung
23	chr8:117781800-117787000	Weak transcription	HUVEC	blood vessel
24	chr8:117781800-117793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:117782000-117787200	Weak transcription	Thymus	Thymus
26	chr8:117782000-117791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:117782000-117814000	Weak transcription	Ovary	ovary
28	chr8:117782200-117791200	Weak transcription	NHEK	skin
29	chr8:117783400-117788000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:117783400-117793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:117783400-117796800	Weak transcription	HMEC	breast
32	chr8:117783600-117786800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:117783600-117789600	Weak transcription	Primary B cells from cord blood	blood
34	chr8:117783800-117793200	Weak transcription	Fetal Brain Female	brain
35	chr8:117784000-117795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:117784000-117796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:117784000-117800600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:117784200-117787600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:117784200-117795000	Weak transcription	HepG2	liver
40	chr8:117784400-117791800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:117784400-117800800	Weak transcription	Fetal Lung	lung
42	chr8:117784600-117787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:117784600-117800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:117784600-117804800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:117784800-117787000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:117784800-117788000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:117784800-117794800	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:117784800-117798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:117785000-117788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:117785200-117787000	Weak transcription	Hela-S3	cervix

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