Variant report

Variant	rs2633584
Chromosome Location	chr3:112216780-112216781
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	chr3:112215809..112217939-chr3:112219323..112221326,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10755071	0.85[ASN][1000 genomes]
rs11706550	0.86[EUR][1000 genomes]
rs12632867	0.87[ASN][1000 genomes]
rs1386895	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1512005	0.86[EUR][1000 genomes]
rs1512006	0.86[EUR][1000 genomes]
rs1844089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877363	0.86[EUR][1000 genomes]
rs1994713	0.86[EUR][1000 genomes]
rs2101632	0.80[ASN][1000 genomes]
rs2131008	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2279532	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2280066	0.86[EUR][1000 genomes]
rs2464611	0.88[ASN][1000 genomes]
rs2633555	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2633578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633582	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638016	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2638017	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2638018	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2638022	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2638031	0.88[ASN][1000 genomes]
rs2638037	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2638042	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2638045	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2668217	0.80[ASN][1000 genomes]
rs2668220	0.80[ASN][1000 genomes]
rs2668222	0.80[ASN][1000 genomes]
rs2705517	0.80[ASN][1000 genomes]
rs2705531	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705532	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2705534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2705543	0.80[ASN][1000 genomes]
rs2705566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28866814	0.86[EUR][1000 genomes]
rs2933142	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2952323	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952326	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2952327	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34233684	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3732815	0.86[EUR][1000 genomes]
rs4519670	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4682410	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4682413	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5000995	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438079	0.80[AMR][1000 genomes]
rs6772077	0.82[ASN][1000 genomes]
rs6774355	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6792947	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7625366	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7652377	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs766968	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9288954	0.86[EUR][1000 genomes]
rs9756562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809247	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9848054	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9854043	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9866734	0.86[EUR][1000 genomes]
rs9869455	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9869579	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active 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	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2633584	SLC35A5	cis	Nerve Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112200600-112217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:112212600-112218600	Active TSS	GM12878-XiMat	blood
3	chr3:112214000-112217000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:112214000-112218400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:112214400-112218200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:112214600-112218600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr3:112214600-112228600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:112214800-112217600	Active TSS	Thymus	Thymus
9	chr3:112215200-112218000	Active TSS	Fetal Thymus	thymus
10	chr3:112215200-112218600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr3:112215200-112218600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr3:112215200-112218600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:112215400-112218200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:112215400-112218600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr3:112215600-112218400	Active TSS	Duodenum Mucosa	Duodenum
16	chr3:112215600-112218400	Active TSS	Small Intestine	intestine
17	chr3:112215800-112217200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr3:112215800-112217800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr3:112215800-112218800	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr3:112216200-112217200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr3:112216200-112218800	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr3:112216400-112218000	Active TSS	Primary B cells from cord blood	blood
23	chr3:112216600-112217000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:112216600-112217400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:112216600-112217600	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:112216600-112218400	Active TSS	Primary B cells from peripheral blood	blood
27	chr3:112216600-112218400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:112216600-112218600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:112216600-112219200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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