Variant report

Variant	rs2633554
Chromosome Location	chr3:112206877-112206878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1249923	1.00[EUR][1000 genomes]
rs1249924	1.00[EUR][1000 genomes]
rs1249927	1.00[EUR][1000 genomes]
rs1386897	1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1615696	1.00[EUR][1000 genomes]
rs1872987	1.00[ASN][1000 genomes]
rs1996724	1.00[ASN][1000 genomes]
rs2029318	1.00[ASN][1000 genomes]
rs2087259	1.00[ASN][1000 genomes]
rs2129856	1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	1.00[ASN][1000 genomes]
rs2633541	1.00[ASN][1000 genomes]
rs2633567	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633591	1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	1.00[ASN][1000 genomes]
rs2633606	1.00[ASN][1000 genomes]
rs2633607	1.00[ASN][1000 genomes]
rs2633608	1.00[ASN][1000 genomes]
rs2683890	1.00[ASN][1000 genomes]
rs2683896	1.00[ASN][1000 genomes]
rs2683897	1.00[ASN][1000 genomes]
rs2683898	1.00[ASN][1000 genomes]
rs2683901	1.00[ASN][1000 genomes]
rs2683902	1.00[ASN][1000 genomes]
rs2683904	1.00[ASN][1000 genomes]
rs2931761	1.00[ASN][1000 genomes]
rs2971202	1.00[EUR][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs4082839	1.00[EUR][1000 genomes]
rs6790380	1.00[EUR][1000 genomes]
rs6797022	1.00[EUR][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72936224	1.00[EUR][1000 genomes]
rs72936250	1.00[EUR][1000 genomes]
rs72938417	1.00[EUR][1000 genomes]
rs72940095	1.00[EUR][1000 genomes]
rs72952469	1.00[ASN][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	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv963487	chr3:112204269-112213816	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112194200-112214000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:112200400-112214800	Weak transcription	Fetal Thymus	thymus
3	chr3:112200600-112208600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:112200600-112217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:112201400-112208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:112201400-112215600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:112201800-112208600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:112202200-112208600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:112202400-112208800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:112202600-112208600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:112203800-112207000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr3:112206000-112208000	Weak transcription	Primary T cells from cord blood	blood
13	chr3:112206400-112207200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:112206400-112210400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr3:112206400-112214000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:112206600-112207000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr3:112206600-112207200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:112206600-112208600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:112206800-112207800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:112206800-112209000	Genic enhancers	Primary B cells from cord blood	blood

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