Variant report

Variant	rs7388498
Chromosome Location	chr8:117787484-117787485
allele	C/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	chr8:117778660..117781359-chr8:117787283..117789893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10109976	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10505288	0.83[AFR][1000 genomes]
rs1550856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16888695	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888699	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867840	0.87[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28649280	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651059	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668628	0.86[EUR][1000 genomes]
rs36189703	0.80[EUR][1000 genomes]
rs4289842	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs56316062	0.84[AFR][1000 genomes]
rs58836328	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59036101	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66883336	0.84[AFR][1000 genomes]
rs67676723	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983626	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014359	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72681699	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823271	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825662	0.96[YRI][hapmap]
rs7828067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829098	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832540	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837208	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838174	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693860	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[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:82 , 50 per page) page: 1 2

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	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:117780400-117796000	Weak transcription	Lung	lung
6	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
7	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
8	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
9	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
13	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:117781600-117788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:117781600-117792600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:117781800-117793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:117782000-117791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:117782000-117814000	Weak transcription	Ovary	ovary
22	chr8:117782200-117791200	Weak transcription	NHEK	skin
23	chr8:117783400-117788000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:117783400-117793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:117783400-117796800	Weak transcription	HMEC	breast
26	chr8:117783600-117789600	Weak transcription	Primary B cells from cord blood	blood
27	chr8:117783800-117793200	Weak transcription	Fetal Brain Female	brain
28	chr8:117784000-117795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:117784000-117796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:117784000-117800600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:117784200-117787600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:117784200-117795000	Weak transcription	HepG2	liver
33	chr8:117784400-117791800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:117784400-117800800	Weak transcription	Fetal Lung	lung
35	chr8:117784600-117800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:117784600-117804800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:117784800-117788000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:117784800-117794800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:117784800-117798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:117785000-117788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:117785200-117787800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:117785200-117788000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:117785400-117787800	Weak transcription	Fetal Thymus	thymus
44	chr8:117785400-117787800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:117785400-117789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:117785400-117792000	Weak transcription	Osteobl	bone
47	chr8:117785400-117794600	Weak transcription	Fetal Kidney	kidney
48	chr8:117785400-117795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:117785400-117795600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:117785400-117795800	Weak transcription	Fetal Brain Male	brain

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