Variant report

Variant	rs4130290
Chromosome Location	chr1:93385743-93385744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93373844..93375386-chr1:93383683..93387098,3	K562	blood:
2	chr1:93375632..93377177-chr1:93384186..93386370,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10465757	0.89[EUR][1000 genomes]
rs12564537	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12565227	0.89[EUR][1000 genomes]
rs17131655	0.89[EUR][1000 genomes]
rs2785608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4240963	1.00[EUR][1000 genomes]
rs4264009	1.00[EUR][1000 genomes]
rs4442373	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4847388	1.00[EUR][1000 genomes]
rs501894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55995837	0.89[EUR][1000 genomes]
rs56185219	0.89[EUR][1000 genomes]
rs56764656	1.00[EUR][1000 genomes]
rs59552478	1.00[EUR][1000 genomes]
rs59925050	0.89[EUR][1000 genomes]
rs60842823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61259042	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs652456	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6669107	1.00[EUR][1000 genomes]
rs74101310	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101322	0.89[EUR][1000 genomes]
rs74101354	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101356	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101362	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101363	0.89[EUR][1000 genomes]
rs7535486	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7548287	0.89[EUR][1000 genomes]
rs9439942	0.89[EUR][1000 genomes]
rs969698	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93366400-93409200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:93367000-93390400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:93369000-93394200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:93370400-93395000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:93370600-93395000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:93376000-93387000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:93376000-93388200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:93376000-93395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:93376000-93400400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:93376600-93386800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:93376600-93388000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:93376800-93395400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:93377000-93401400	Weak transcription	Dnd41	blood
14	chr1:93380800-93386000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:93381000-93395400	Weak transcription	Thymus	Thymus
16	chr1:93382200-93394800	Weak transcription	Gastric	stomach
17	chr1:93382600-93387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:93382600-93388000	Weak transcription	Liver	Liver
19	chr1:93383000-93386800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:93383000-93395800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:93383200-93386200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:93383400-93386400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:93383400-93386400	Weak transcription	A549	lung
24	chr1:93383400-93387000	Weak transcription	NHDF-Ad	bronchial
25	chr1:93383400-93387600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:93383400-93388000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:93383400-93388000	Weak transcription	Osteobl	bone
28	chr1:93383400-93389200	Weak transcription	Fetal Lung	lung
29	chr1:93383400-93395000	Weak transcription	NHLF	lung
30	chr1:93383400-93396800	Weak transcription	Fetal Stomach	stomach
31	chr1:93383600-93390600	Weak transcription	HepG2	liver
32	chr1:93383600-93394600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:93384000-93386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:93384000-93387200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:93384000-93388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:93384400-93387200	Strong transcription	Primary T cells from cord blood	blood
37	chr1:93384600-93389800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:93384800-93387400	Strong transcription	Primary B cells from cord blood	blood
39	chr1:93384800-93399200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:93385000-93388000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:93385200-93388000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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