Variant report

Variant	rs7514649
Chromosome Location	chr1:114079822-114079823
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	chr1:114078894..114080860-chr1:114093812..114095778,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1419231	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17274627	0.92[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs17359281	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17461918	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17508449	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2146018	0.82[ASN][1000 genomes]
rs3761934	0.82[ASN][1000 genomes]
rs41352847	0.82[ASN][1000 genomes]
rs4259646	0.80[CHD][hapmap]
rs4838993	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838994	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4839327	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839329	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4839330	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4839331	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4839332	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4839333	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap]
rs6537790	0.80[CHD][hapmap]
rs6669008	1.00[YRI][hapmap]
rs6678422	0.82[ASN][1000 genomes]
rs7517631	1.00[YRI][hapmap]
rs7554019	0.80[CHD][hapmap]

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	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7514649	KCNA10	cis	parietal	SCAN
rs7514649	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL
rs7514649	ADORA3	cis	parietal	SCAN
rs7514649	CD53	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
2	chr1:114076600-114080000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:114077200-114081800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:114077200-114082600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:114077200-114082800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:114077400-114080400	Enhancers	NHDF-Ad	bronchial
7	chr1:114077600-114083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:114077800-114080800	Weak transcription	Psoas Muscle	Psoas
9	chr1:114077800-114082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:114077800-114082600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:114077800-114083000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:114077800-114084400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:114077800-114084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:114077800-114084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:114078000-114090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:114078600-114084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:114078600-114084600	Weak transcription	HSMMtube	muscle
18	chr1:114078800-114080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:114079000-114080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:114079200-114083200	Weak transcription	Osteobl	bone
21	chr1:114079400-114080800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:114079400-114080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:114079400-114084400	Weak transcription	NH-A	brain
24	chr1:114079800-114080000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:114079800-114080000	Enhancers	NHLF	lung
26	chr1:114079800-114080200	Enhancers	Left Ventricle	heart
27	chr1:114079800-114080200	Enhancers	Ovary	ovary
28	chr1:114079800-114080200	Enhancers	Pancreas	Pancrea
29	chr1:114079800-114080200	ZNF genes & repeats	A549	lung
30	chr1:114079800-114080400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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