Variant report

Variant	rs60286828
Chromosome Location	chr3:112193139-112193140
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	chr3:112189206..112190998-chr3:112191867..112193876,2	K562	blood:

Variant related genes	Relation type
ENSG00000186265	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1817694	1.00[EUR][1000 genomes]
rs1906519	1.00[EUR][1000 genomes]
rs56231377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57024033	1.00[EUR][1000 genomes]
rs57496061	1.00[EUR][1000 genomes]
rs57606986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58720291	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60526457	1.00[EUR][1000 genomes]
rs60780375	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61109654	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438081	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6792289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938427	1.00[EUR][1000 genomes]
rs73853430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853433	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853435	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853437	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112180400-112195400	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr3:112182200-112193600	Weak transcription	Spleen	Spleen
3	chr3:112183800-112195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:112186000-112194400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:112186400-112194400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr3:112186400-112195000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:112186400-112195200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:112186400-112195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:112188800-112197600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:112189200-112193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:112190600-112193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:112190600-112194400	Enhancers	Thymus	Thymus
13	chr3:112190600-112198400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:112190800-112195400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:112191000-112193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:112191000-112193800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:112191200-112193400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:112192000-112194200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:112192000-112194400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr3:112192000-112194600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:112192400-112193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:112192400-112193200	Weak transcription	Right Atrium	heart
23	chr3:112192400-112193400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:112192400-112194000	Weak transcription	HepG2	liver
25	chr3:112192400-112194200	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:112192400-112194400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:112192400-112194600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:112192400-112196600	Genic enhancers	Primary B cells from cord blood	blood
29	chr3:112192600-112193200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:112192800-112193400	Enhancers	Primary T cells from cord blood	blood
31	chr3:112192800-112200200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:112193000-112193600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:112193000-112197800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:112193000-112200000	Weak transcription	Fetal Thymus	thymus

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