Variant report

Variant	rs1916886
Chromosome Location	chr7:121530556-121530557
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	chr7:121529232..121531961-chr7:121532248..121534152,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1007522	0.81[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1007784	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1011693	0.82[JPT][hapmap]
rs10246475	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10256242	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap]
rs10275407	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11978007	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1206473	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206477	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206480	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1206481	1.00[CEU][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1206482	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1206483	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes]
rs1206486	0.82[JPT][hapmap]
rs1206488	0.82[JPT][hapmap]
rs1206492	0.82[JPT][hapmap]
rs1206500	0.82[JPT][hapmap]
rs1206501	0.82[JPT][hapmap]
rs12666526	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916883	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916888	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916889	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2024249	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2191782	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2215572	0.89[CEU][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402590	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28530500	0.83[ASN][1000 genomes]
rs3757549	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757550	0.90[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740960	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740963	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs740964	0.85[CEU][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs7778179	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797305	0.81[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap]
rs7802916	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7808915	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7809971	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7811200	0.86[ASN][1000 genomes]
rs960539	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[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	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
rs1916886	KCND2	cis	cerebellum	SCAN
rs1916886	TAS2R16	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121515600-121543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121522600-121550000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121523200-121539800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:121523200-121552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:121525400-121531600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:121525600-121530800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:121526200-121531000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:121527200-121531200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:121527400-121531000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:121527400-121540600	Weak transcription	Fetal Brain Female	brain
11	chr7:121528000-121550000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:121528400-121531000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:121528400-121531200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:121528400-121531800	Weak transcription	Fetal Brain Male	brain
15	chr7:121528600-121531000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:121529400-121531200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:121529600-121530600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:121529800-121530600	Enhancers	NHEK	skin
19	chr7:121529800-121530800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:121529800-121531200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:121530000-121532400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:121530200-121530600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:121530200-121530600	Enhancers	HMEC	breast
24	chr7:121530400-121530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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