Variant report

Variant	rs2387620
Chromosome Location	chr8:102708371-102708372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10095534	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10099953	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075791	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13270960	0.86[GIH][hapmap]
rs13272106	0.84[GIH][hapmap]
rs13281022	0.87[EUR][1000 genomes]
rs2211920	0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2387621	0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs28619877	0.84[EUR][1000 genomes]
rs4734039	0.89[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4734584	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734585	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734587	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6468786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6468787	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990400	0.91[JPT][hapmap]
rs7460166	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7825269	0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7826700	0.81[EUR][1000 genomes]
rs7843836	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7844804	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2387620	ODF1	cis	parietal	SCAN
rs2387620	RIMS2	cis	parietal	SCAN
rs2387620	KLF10	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102696600-102708400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:102697600-102713000	Weak transcription	Psoas Muscle	Psoas
3	chr8:102699600-102714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:102700000-102730600	Weak transcription	Aorta	Aorta
5	chr8:102701200-102713200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:102701600-102708600	Weak transcription	GM12878-XiMat	blood
7	chr8:102701800-102709400	Weak transcription	Gastric	stomach
8	chr8:102702000-102715600	Weak transcription	Pancreas	Pancrea
9	chr8:102702200-102708600	Weak transcription	Primary T cells from cord blood	blood
10	chr8:102702400-102713000	Weak transcription	Lung	lung
11	chr8:102703200-102712400	Weak transcription	Right Ventricle	heart
12	chr8:102703600-102708600	Weak transcription	Adipose Nuclei	Adipose
13	chr8:102703800-102712600	Weak transcription	Liver	Liver
14	chr8:102703800-102713000	Weak transcription	Left Ventricle	heart
15	chr8:102704200-102713200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:102704600-102712000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:102704600-102712600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:102705000-102712600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:102705200-102708600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:102705600-102715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:102705800-102709200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:102706000-102712600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:102706200-102708400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:102706400-102712600	Weak transcription	Fetal Stomach	stomach
25	chr8:102706800-102713000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:102707200-102712600	Weak transcription	Fetal Thymus	thymus
27	chr8:102707800-102708400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:102707800-102712600	Weak transcription	Ovary	ovary
29	chr8:102708000-102708800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr8:102708000-102708800	Weak transcription	Fetal Muscle Trunk	muscle

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