Variant report

Variant	rs3783546
Chromosome Location	chr2:113534830-113534831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113528918..113531311-chr2:113533495..113535043,2	K562	blood:
2	chr2:113533014..113535192-chr2:113549510..113553376,4	K562	blood:
3	chr2:113524833..113528403-chr2:113530535..113535066,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10165537	0.82[CHB][hapmap]
rs10167914	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193063	0.82[CHB][hapmap]
rs10200192	0.82[CHB][hapmap]
rs10496444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676014	0.92[ASN][1000 genomes]
rs11687624	0.95[ASN][1000 genomes]
rs12471565	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478842	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612788	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622683	0.81[CHB][hapmap]
rs12711741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000462	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13009294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013602	0.82[CHB][hapmap]
rs13015273	0.90[CHB][hapmap]
rs13016817	0.90[CHB][hapmap]
rs13019249	0.84[CHB][hapmap]
rs13026263	0.81[CHB][hapmap]
rs13027814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533463	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649681	0.82[CHB][hapmap]
rs1969294	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783512	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783516	0.81[CHB][hapmap]
rs3783521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783539	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811040	0.81[CHB][hapmap]
rs4402765	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4848298	0.81[CHB][hapmap]
rs4848301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706663	0.81[CHB][hapmap]
rs6712572	0.82[CHB][hapmap]
rs6721044	0.82[CHB][hapmap]
rs6746923	0.81[CHB][hapmap]
rs6753803	0.81[CHB][hapmap]
rs7369378	0.92[ASN][1000 genomes]
rs74182856	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567619	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs7577241	0.81[CHB][hapmap]
rs908551	0.81[CHB][hapmap]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3436785	chr2:113533106-113535654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3390387	chr2:113533281-113535579	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2518569	chr2:113533595-113535001	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3354690	chr2:113533781-113535129	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
3	chr2:113526800-113537800	Weak transcription	NHDF-Ad	bronchial
4	chr2:113530200-113541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:113530400-113538600	Weak transcription	K562	blood
6	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:113533600-113535200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:113533800-113535200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:113534000-113538800	Weak transcription	GM12878-XiMat	blood
13	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
14	chr2:113534400-113535600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:113534600-113535000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:113534600-113535000	Enhancers	Thymus	Thymus
17	chr2:113534600-113535200	Enhancers	Primary T cells from cord blood	blood
18	chr2:113534600-113535200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:113534600-113535200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:113534600-113535200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:113534600-113535200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:113534600-113535200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:113534600-113535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:113534600-113535400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:113534600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:113534600-113535600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:113534600-113535600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:113534600-113535600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:113534600-113535800	Genic enhancers	HMEC	breast
30	chr2:113534800-113536600	Genic enhancers	NHEK	skin
31	chr2:113534800-113537600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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