Variant report

Variant	rs985382
Chromosome Location	chr1:211117773-211117774
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	chr1:211113979..211116168-chr1:211116520..211118696,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10779546	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10779547	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10779548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863871	0.81[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs11119633	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11119636	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs1354112	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1393029	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1393030	0.84[AFR][1000 genomes]
rs1501547	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1501554	0.81[CEU][hapmap]
rs1501556	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1501561	0.81[CEU][hapmap]
rs1542887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566602	0.88[ASW][hapmap];0.81[CEU][hapmap]
rs17188755	0.96[ASN][1000 genomes]
rs17188839	1.00[YRI][hapmap]
rs1777242	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1846946	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1875437	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2062673	0.81[CEU][hapmap]
rs2088878	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2134109	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2358091	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358092	1.00[ASW][hapmap];0.81[CEU][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2358117	0.90[AFR][1000 genomes]
rs3951251	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4642960	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951491	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4951492	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4951701	0.88[ASW][hapmap];0.81[CEU][hapmap]
rs4951702	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4951706	0.80[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4951708	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4951710	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6686447	0.83[YRI][hapmap];0.90[AFR][1000 genomes]
rs6692020	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6699049	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6702809	0.81[CEU][hapmap]
rs7547937	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs924567	0.81[CEU][hapmap]
rs924568	0.88[ASW][hapmap];0.81[CEU][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs985382	C1orf74	cis	parietal	SCAN
rs985382	KCNH1	cis	cerebellum	SCAN
rs985382	VASH2	cis	parietal	SCAN
rs985382	IKBKE	cis	cerebellum	SCAN
rs985382	IKBKE	cis	parietal	SCAN
rs985382	SRGAP2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211112200-211124000	Weak transcription	HSMMtube	muscle
2	chr1:211112400-211120000	Weak transcription	HSMM	muscle
3	chr1:211112800-211124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211117200-211118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:211117200-211118000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:211117400-211118000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:211117600-211118000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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