Variant report

Variant	rs73853435
Chromosome Location	chr3:112217769-112217770
allele	A/C
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1817694	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1906519	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56231377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57024033	1.00[EUR][1000 genomes]
rs57496061	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57606986	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58720291	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60286828	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60526457	1.00[EUR][1000 genomes]
rs60780375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61109654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6792289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938427	1.00[EUR][1000 genomes]
rs73853430	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7612986	0.83[AMR][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

No data

Chromatin state (count:30 , 50 per page) page: 1

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

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