Variant report

Variant	rs6982502
Chromosome Location	chr8:126479362-126479363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126479289..126481809-chr8:126483424..126485504,2	K562	blood:
2	chr8:126479289..126481809-chr8:126483424..126485504,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17321515	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2001844	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001845	0.82[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2001846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954017	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2954018	0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2954019	0.85[CEU][hapmap]
rs2954021	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954022	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2954029	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2954031	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2980853	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.94[ASN][1000 genomes]
rs2980854	0.85[CEU][hapmap]
rs2980855	0.85[CEU][hapmap]
rs2980856	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs2980860	0.92[ASN][1000 genomes]
rs2980868	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980869	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980871	0.82[CEU][hapmap]
rs2980875	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.92[ASN][1000 genomes]
rs2980878	1.00[YRI][hapmap]
rs2980882	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980886	0.92[ASN][1000 genomes]
rs6982636	0.81[EUR][1000 genomes];0.94[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6982502	C8orf76	cis	cerebellum	SCAN
rs6982502	HAS2	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126475800-126479600	Enhancers	Placenta	Placenta
2	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:126477000-126479800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:126477200-126479800	Enhancers	HUVEC	blood vessel
5	chr8:126477400-126479400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:126477400-126479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:126477600-126479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126477600-126479400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:126477600-126479400	Enhancers	Adipose Nuclei	Adipose
11	chr8:126477600-126479400	Enhancers	Fetal Stomach	stomach
12	chr8:126477600-126479400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:126477600-126479400	Enhancers	Spleen	Spleen
14	chr8:126477600-126479600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:126477600-126479600	Enhancers	NH-A	brain
16	chr8:126477600-126479800	Enhancers	Fetal Lung	lung
17	chr8:126477600-126480000	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:126477800-126479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:126477800-126479400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:126477800-126479400	Enhancers	Left Ventricle	heart
21	chr8:126477800-126479400	Enhancers	Lung	lung
22	chr8:126477800-126479400	Enhancers	Ovary	ovary
23	chr8:126477800-126479400	Enhancers	Right Atrium	heart
24	chr8:126477800-126479600	Enhancers	Fetal Heart	heart
25	chr8:126477800-126479600	Enhancers	HSMM	muscle
26	chr8:126477800-126479800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:126477800-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:126477800-126480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:126478000-126479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:126478000-126479400	Enhancers	Gastric	stomach
31	chr8:126478000-126479400	Enhancers	Stomach Mucosa	stomach
32	chr8:126478000-126479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:126478000-126479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:126478000-126479600	Enhancers	Fetal Intestine Small	intestine
35	chr8:126478000-126479600	Enhancers	NHLF	lung
36	chr8:126478000-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:126478000-126479800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:126478200-126479600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:126478400-126479400	Enhancers	Fetal Intestine Large	intestine
40	chr8:126478400-126479400	Enhancers	Pancreas	Pancrea
41	chr8:126478400-126479400	Enhancers	Small Intestine	intestine
42	chr8:126478600-126479400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:126478600-126479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:126478600-126479600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:126478600-126479600	Enhancers	Primary hematopoietic stem cells	blood
46	chr8:126478800-126479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:126478800-126479400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:126478800-126479400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:126478800-126479400	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:126478800-126479400	Flanking Active TSS	Fetal Kidney	kidney

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