Variant report

Variant	rs2540938
Chromosome Location	chr2:37065790-37065791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1015599	1.00[EUR][1000 genomes]
rs1019311	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs11124550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892892	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896317	1.00[EUR][1000 genomes]
rs2041829	0.87[AMR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160336	0.87[AMR][1000 genomes]
rs2160378	1.00[EUR][1000 genomes]
rs2247610	1.00[EUR][1000 genomes]
rs2540921	1.00[EUR][1000 genomes]
rs2540927	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540928	1.00[EUR][1000 genomes]
rs2540932	1.00[EUR][1000 genomes]
rs2540934	0.95[YRI][hapmap]
rs2540935	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[EUR][1000 genomes]
rs2691117	1.00[EUR][1000 genomes]
rs2691121	1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717499	1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717506	1.00[EUR][1000 genomes]
rs2717513	1.00[EUR][1000 genomes]
rs2717514	0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717515	1.00[EUR][1000 genomes]
rs2717517	1.00[EUR][1000 genomes]
rs2717521	1.00[EUR][1000 genomes]
rs2949393	1.00[EUR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61561618	1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[EUR][1000 genomes]
rs6758960	0.87[AMR][1000 genomes]
rs723674	1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs7593630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964853	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37060800-37070000	Weak transcription	HSMM	muscle
2	chr2:37061400-37067200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37061400-37067400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37062400-37074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:37062400-37075800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:37062600-37069400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:37062800-37073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:37062800-37076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:37063000-37067000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:37063000-37067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:37063000-37069600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37063000-37071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:37063000-37071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:37063000-37074000	Weak transcription	Dnd41	blood
16	chr2:37063000-37074200	Weak transcription	Primary T cells from cord blood	blood
17	chr2:37063000-37076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:37063200-37074200	Weak transcription	HUVEC	blood vessel
20	chr2:37063400-37066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:37063400-37067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:37063400-37067200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:37063800-37069600	Weak transcription	NHEK	skin
24	chr2:37064000-37076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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