Variant report

Variant	rs57010522
Chromosome Location	chr3:113345948-113345949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113344949..113346742-chr3:113347949..113349621,2	MCF-7	breast:
2	chr3:113345778..113347609-chr3:113349348..113351544,2	MCF-7	breast:
3	chr3:113214016..113214541-chr3:113345608..113346149,2	MCF-7	breast:
4	chr3:113212644..113213616-chr3:113345270..113345956,2	K562	blood:

Variant related genes	Relation type
ENSG00000163611	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10934239	0.87[AMR][1000 genomes]
rs10934240	0.87[AMR][1000 genomes]
rs11914863	0.93[AMR][1000 genomes]
rs11918910	0.93[AMR][1000 genomes]
rs11920913	0.87[AMR][1000 genomes]
rs11921407	0.93[AMR][1000 genomes]
rs12490048	0.81[AMR][1000 genomes]
rs12492783	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493935	0.87[AMR][1000 genomes]
rs16861230	0.81[AMR][1000 genomes]
rs16861233	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16861235	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2292512	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3773686	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58868226	1.00[EUR][1000 genomes]
rs73854819	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113320800-113347600	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr3:113321200-113349200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:113321200-113349600	Weak transcription	Lung	lung
4	chr3:113322600-113348600	Weak transcription	Colonic Mucosa	Colon
5	chr3:113326600-113350000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr3:113326800-113349200	Strong transcription	GM12878-XiMat	blood
7	chr3:113326800-113350200	Strong transcription	Primary T cells from cord blood	blood
8	chr3:113332400-113346600	Weak transcription	Gastric	stomach
9	chr3:113332400-113349200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:113333600-113352000	Weak transcription	Spleen	Spleen
11	chr3:113334600-113349400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:113336400-113350000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:113336400-113350000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:113338400-113349200	Weak transcription	Esophagus	oesophagus
15	chr3:113338400-113353800	Weak transcription	Stomach Mucosa	stomach
16	chr3:113340000-113346400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:113340400-113346000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:113341400-113349800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:113342200-113349200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:113342400-113349200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:113342600-113347200	Weak transcription	Psoas Muscle	Psoas
22	chr3:113342600-113347400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:113342600-113375800	Weak transcription	Pancreas	Pancrea
24	chr3:113343200-113346400	Weak transcription	Thymus	Thymus
25	chr3:113343200-113346600	Weak transcription	Fetal Thymus	thymus
26	chr3:113343200-113346800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:113344200-113346200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:113344200-113346600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:113344600-113346200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:113344800-113346000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr3:113344800-113346000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr3:113344800-113346000	Active TSS	Right Atrium	heart
33	chr3:113344800-113346200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:113344800-113346200	Active TSS	Brain Cingulate Gyrus	brain
35	chr3:113344800-113346400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr3:113344800-113346600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:113344800-113350000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:113345000-113346000	Active TSS	Fetal Muscle Trunk	muscle
39	chr3:113345000-113346000	Enhancers	NHDF-Ad	bronchial
40	chr3:113345000-113346200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr3:113345200-113347200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:113345400-113346000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:113345400-113346000	Flanking Active TSS	Osteobl	bone
44	chr3:113345400-113346200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:113345400-113347800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:113345400-113348200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:113345600-113346000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:113345600-113346000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:113345600-113346000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:113345600-113346000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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