Variant report

Variant	rs1206504
Chromosome Location	chr7:121567350-121567351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1011693	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1024713	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767822	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196480	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1196481	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1196483	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1196484	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1196486	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1196487	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196488	0.83[EUR][1000 genomes]
rs1196490	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196491	0.83[EUR][1000 genomes]
rs1196493	0.81[EUR][1000 genomes]
rs1196494	0.81[EUR][1000 genomes]
rs1196495	0.80[EUR][1000 genomes]
rs1196511	0.83[EUR][1000 genomes]
rs1206367	0.84[ASW][hapmap]
rs1206368	0.84[ASW][hapmap]
rs1206369	0.84[ASW][hapmap]
rs1206486	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1206487	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206488	0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206490	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206492	0.88[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206494	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206500	0.83[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206501	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206502	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211621	0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs12671846	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229261	0.83[CHB][hapmap]
rs1526314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1721859	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1725066	0.84[ASW][hapmap]
rs1916875	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1916876	0.83[EUR][1000 genomes]
rs2024252	0.81[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279668	0.84[ASW][hapmap]
rs279674	0.84[ASW][hapmap]
rs28530500	0.84[EUR][1000 genomes]
rs4629793	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731044	0.81[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6961716	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6964319	0.83[CHB][hapmap]
rs6967270	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs727766	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7794741	0.81[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.85[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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1206504	KCND2	cis	cerebellum	SCAN
rs1206504	TAS2R16	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:121565600-121567800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:121565600-121568600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:121565600-121571000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:121565800-121571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:121565800-121571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:121565800-121571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:121565800-121576800	Weak transcription	Fetal Brain Female	brain
9	chr7:121566000-121570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:121566000-121571600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:121566600-121571400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:121566800-121568600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:121566800-121569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:121566800-121571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:121566800-121571600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:121567200-121567400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:121567200-121567800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:121567200-121568600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:121567200-121570800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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