Variant report

Variant	rs4543512
Chromosome Location	chr8:38938080-38938081
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	chr8:38646610..38648767-chr8:38937995..38940120,2	K562	blood:
2	chr8:38936688..38939079-chr8:38941163..38942951,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089487	0.94[JPT][hapmap]
rs10113077	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10958813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11777149	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11777376	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11787126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12056655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12541231	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543388	0.83[EUR][1000 genomes]
rs12543921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546318	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548006	0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12548416	0.83[EUR][1000 genomes]
rs12548948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12549547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13248324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13268394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13274567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34070223	0.83[EUR][1000 genomes]
rs34138150	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34185462	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391544	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35534138	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4129095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4495395	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4733897	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs4733901	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733905	0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733964	0.81[JPT][hapmap]
rs4733970	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6474516	0.81[JPT][hapmap]
rs66925354	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832578	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs7838874	0.94[JPT][hapmap]
rs9643858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643902	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643904	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
4	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
9	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
10	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
12	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
13	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:38919000-38944400	Weak transcription	Lung	lung
15	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:38919000-38970400	Weak transcription	K562	blood
18	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:38920400-38940800	Weak transcription	Primary B cells from cord blood	blood
20	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:38920800-38940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
23	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
24	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
25	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:38921000-38965000	Weak transcription	Gastric	stomach
28	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:38922000-38950400	Weak transcription	Fetal Brain Female	brain
30	chr8:38922600-38940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:38922600-38940400	Weak transcription	GM12878-XiMat	blood
32	chr8:38923600-38945600	Weak transcription	Fetal Intestine Small	intestine
33	chr8:38923600-38949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:38926200-38963600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:38927600-38940600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:38927600-38945600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:38928200-38943400	Strong transcription	HUVEC	blood vessel
38	chr8:38929200-38941600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:38929400-38938600	Strong transcription	Fetal Lung	lung
40	chr8:38929800-38950600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr8:38930200-38940400	Weak transcription	Psoas Muscle	Psoas
42	chr8:38930200-38940600	Weak transcription	Liver	Liver
43	chr8:38930200-38944400	Weak transcription	Pancreas	Pancrea
44	chr8:38930400-38940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:38930600-38939800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:38930800-38944200	Weak transcription	Hela-S3	cervix
47	chr8:38931200-38948400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:38932400-38964800	Weak transcription	Brain Germinal Matrix	brain
49	chr8:38932800-38941800	Strong transcription	NH-A	brain
50	chr8:38933000-38938200	Strong transcription	Osteobl	bone

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