Variant report

Variant	rs62524647
Chromosome Location	chr8:131169700-131169701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10091130	0.81[AFR][1000 genomes]
rs10505548	0.84[ASN][1000 genomes]
rs10505549	0.83[ASN][1000 genomes]
rs10956513	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10956515	0.83[ASN][1000 genomes]
rs10956517	0.83[ASN][1000 genomes]
rs11781752	0.95[ASN][1000 genomes]
rs12542411	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12545910	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12546603	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12547397	0.84[ASN][1000 genomes]
rs12547540	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12675390	0.94[ASN][1000 genomes]
rs12675543	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12676836	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12681954	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12681955	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1469286	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1549455	0.85[ASN][1000 genomes]
rs16893271	0.80[ASN][1000 genomes]
rs16904204	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904208	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16904212	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16904219	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16904223	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16904231	0.80[ASN][1000 genomes]
rs1960661	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2305511	0.86[ASN][1000 genomes]
rs36004574	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3812476	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733569	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4733771	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733772	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55759245	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55993168	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57198371	0.83[ASN][1000 genomes]
rs59297824	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62524627	0.87[EUR][1000 genomes]
rs62524628	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62524629	0.84[EUR][1000 genomes]
rs62524632	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62524635	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62524643	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62524644	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62524649	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62525876	0.82[ASN][1000 genomes]
rs62525884	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62525885	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62525888	0.85[ASN][1000 genomes]
rs62525889	0.85[ASN][1000 genomes]
rs62525921	0.83[ASN][1000 genomes]
rs62525922	0.81[ASN][1000 genomes]
rs6991714	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6996106	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6996469	0.83[ASN][1000 genomes]
rs7006336	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716077	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722330	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722366	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72722371	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72724420	0.83[ASN][1000 genomes]
rs7462286	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
4	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:131147600-131170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
10	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:131148400-131169800	Weak transcription	K562	blood
13	chr8:131148600-131169800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131148600-131170200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131149000-131170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:131149200-131172200	Weak transcription	HepG2	liver
18	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131155200-131169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
25	chr8:131155600-131177600	Strong transcription	A549	lung
26	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
27	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
28	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:131157800-131176200	Strong transcription	Placenta	Placenta
30	chr8:131158000-131178600	Weak transcription	Hela-S3	cervix
31	chr8:131158200-131176000	Strong transcription	Fetal Muscle Leg	muscle
32	chr8:131159000-131170800	Strong transcription	HUVEC	blood vessel
33	chr8:131159000-131171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:131161400-131172800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:131162400-131174600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:131162800-131169800	Weak transcription	Right Ventricle	heart
39	chr8:131163000-131171200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:131163000-131174800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
42	chr8:131164200-131175800	Strong transcription	NHLF	lung
43	chr8:131164200-131177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:131164400-131170600	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:131164400-131177000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:131164400-131177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:131164400-131177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:131164600-131171800	Weak transcription	Dnd41	blood

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