Variant report

Variant	rs282003
Chromosome Location	chr1:91787675-91787676
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91786405..91788910-chr1:91799387..91801097,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1034499	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10493845	0.85[YRI][hapmap]
rs10801849	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10801851	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs10801862	0.81[YRI][hapmap]
rs10923006	0.94[ASN][1000 genomes]
rs10923008	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1158436	0.81[YRI][hapmap]
rs12037980	0.81[ASN][1000 genomes]
rs1595867	0.81[AMR][1000 genomes]
rs172191	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822056	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs204304	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs281934	0.92[ASN][1000 genomes]
rs281953	0.94[ASN][1000 genomes]
rs281973	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs281979	0.81[YRI][hapmap]
rs281985	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281990	0.85[YRI][hapmap]
rs281992	0.81[YRI][hapmap]
rs281996	0.81[YRI][hapmap]
rs281997	0.85[YRI][hapmap]
rs281998	0.81[YRI][hapmap]
rs282000	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs282004	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap]
rs282011	0.82[ASN][1000 genomes]
rs282017	0.82[ASN][1000 genomes]
rs282021	0.81[ASN][1000 genomes]
rs282056	0.91[ASN][1000 genomes]
rs282057	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2893151	0.97[ASN][1000 genomes]
rs3893101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs665098	0.81[AMR][1000 genomes]
rs693299	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7541566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9660466	0.84[ASN][1000 genomes]
rs9663060	0.83[AMR][1000 genomes]
rs9728662	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs282003	HFM1	cis	parietal	SCAN
rs282003	HFM1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91772800-91793800	Weak transcription	Left Ventricle	heart
2	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
3	chr1:91774800-91794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:91775000-91793800	Weak transcription	Pancreas	Pancrea
5	chr1:91775200-91794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:91776600-91793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:91777600-91790600	Weak transcription	Fetal Brain Female	brain
8	chr1:91777600-91790600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:91777600-91790800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:91777600-91794000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:91777800-91794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:91778000-91790600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:91778000-91790600	Weak transcription	Fetal Lung	lung
14	chr1:91778000-91793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:91778000-91794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:91778000-91794000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:91778600-91790400	Weak transcription	Fetal Stomach	stomach
18	chr1:91778600-91793800	Weak transcription	Ovary	ovary
19	chr1:91779000-91793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:91786200-91788800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:91786200-91795000	Weak transcription	Psoas Muscle	Psoas
23	chr1:91786800-91790600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:91787600-91787800	Enhancers	NHDF-Ad	bronchial

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