Variant report

Variant	rs2382231
Chromosome Location	chr2:149290943-149290944
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	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
2	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1031290	0.90[CHB][hapmap]
rs10928404	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10928407	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12464036	0.86[EUR][1000 genomes]
rs12468186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12472738	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12616115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12997473	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12997838	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13003132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008203	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13010027	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13029692	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16828791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16828816	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16828836	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16828954	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16828967	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16829034	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1809051	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34210886	0.82[AMR][1000 genomes]
rs34324924	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34671855	0.86[EUR][1000 genomes]
rs34881950	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35057193	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35076661	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35154707	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35168772	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36067597	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972285	0.85[GIH][hapmap]
rs4972369	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4972375	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6430323	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6709767	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6746352	0.90[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6756002	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761549	0.90[CHB][hapmap]
rs71413623	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs720844	0.90[CHB][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap]
rs7578059	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7597133	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7599758	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7606475	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764386	0.94[ASN][1000 genomes]
rs930651	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs930652	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3426219	chr2:149286782-149290980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2382231	NEB	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:149286200-149295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:149287800-149291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:149288800-149296800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:149289400-149291000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:149289600-149291000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:149289600-149291000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:149289600-149291800	Weak transcription	Right Atrium	heart
11	chr2:149289800-149291000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:149289800-149291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:149290000-149291800	Weak transcription	Left Ventricle	heart
14	chr2:149290000-149293000	Weak transcription	Right Ventricle	heart
15	chr2:149290200-149291000	Weak transcription	Fetal Heart	heart
16	chr2:149290200-149291000	Weak transcription	K562	blood
17	chr2:149290200-149292800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:149290400-149292400	Enhancers	Fetal Thymus	thymus
19	chr2:149290400-149292600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:149290600-149292800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:149290800-149291000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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