Variant report

Variant	rs57863684
Chromosome Location	chr8:63940492-63940493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1031553	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957259	0.82[EUR][1000 genomes]
rs10957262	0.82[EUR][1000 genomes]
rs10957263	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10957264	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957267	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994355	0.82[EUR][1000 genomes]
rs12541798	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541873	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544234	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548933	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681818	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681874	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16918945	0.82[EUR][1000 genomes]
rs16918948	0.82[EUR][1000 genomes]
rs16930047	0.84[EUR][1000 genomes]
rs16930051	0.82[EUR][1000 genomes]
rs16930062	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16930070	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2124293	0.84[EUR][1000 genomes]
rs2168316	0.84[EUR][1000 genomes]
rs2168317	0.84[EUR][1000 genomes]
rs4534127	0.87[ASN][1000 genomes]
rs4581048	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737623	0.82[EUR][1000 genomes]
rs4739033	0.84[EUR][1000 genomes]
rs4739034	0.84[EUR][1000 genomes]
rs4739039	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4739040	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4739041	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57646286	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59202889	0.84[EUR][1000 genomes]
rs60408006	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60782904	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60800990	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60865954	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62508118	0.84[EUR][1000 genomes]
rs62508120	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62508122	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62510065	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984196	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004312	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7017200	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs57863684	GGH	cis	Artery Tibial	GTEx
rs57863684	GGH	cis	Adipose Subcutaneous	GTEx
rs57863684	GGH	cis	lung	GTEx
rs57863684	GGH	cis	Nerve Tibial	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
3	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:63922800-63950000	Weak transcription	HMEC	breast
6	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
11	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:63924200-63941200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:63924800-63941000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:63926200-63945200	Weak transcription	A549	lung
16	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
17	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
19	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:63932200-63942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:63935400-63949200	Weak transcription	K562	blood
23	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
24	chr8:63936200-63941000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:63936400-63948800	Weak transcription	GM12878-XiMat	blood
27	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:63937000-63940600	Weak transcription	HepG2	liver
31	chr8:63937200-63941000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:63938000-63940800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:63938000-63940800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:63938000-63941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:63938000-63949200	Weak transcription	NHEK	skin
36	chr8:63938000-63950000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:63938200-63943200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:63938600-63941000	Enhancers	Liver	Liver
40	chr8:63938600-63948600	Weak transcription	NH-A	brain
41	chr8:63938600-63949200	Weak transcription	HUVEC	blood vessel
42	chr8:63938800-63941000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:63939200-63950000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:63939400-63941000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:63939600-63949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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