Variant report

Variant	rs13167838
Chromosome Location	chr5:43476447-43476448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
2	chr5:43395714..43399246-chr5:43475747..43479018,3	MCF-7	breast:
3	chr5:43475458..43478438-chr5:43602364..43603986,2	K562	blood:
4	chr5:43118701..43121317-chr5:43476205..43478903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151882	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10461740	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10462050	1.00[AMR][1000 genomes]
rs10941642	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12653472	1.00[AMR][1000 genomes]
rs12656199	1.00[AMR][1000 genomes]
rs12656650	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12657635	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12657724	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12658205	1.00[AMR][1000 genomes]
rs12659627	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13154319	1.00[CEU][hapmap]
rs13155888	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13158442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13160431	1.00[CEU][hapmap]
rs13161668	1.00[AMR][1000 genomes]
rs13161770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13165869	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13168053	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13169908	1.00[CEU][hapmap]
rs13173517	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13179680	1.00[AMR][1000 genomes]
rs13180902	1.00[CEU][hapmap]
rs13183407	1.00[AMR][1000 genomes]
rs13186439	1.00[CEU][hapmap]
rs13188884	1.00[AMR][1000 genomes]
rs13190614	1.00[AMR][1000 genomes]
rs16873319	1.00[CEU][hapmap]
rs34096155	1.00[AMR][1000 genomes]
rs34179982	1.00[AMR][1000 genomes]
rs34211578	1.00[AMR][1000 genomes]
rs34350522	1.00[AMR][1000 genomes]
rs34455365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34512505	1.00[AMR][1000 genomes]
rs34617389	1.00[AMR][1000 genomes]
rs34788563	1.00[AMR][1000 genomes]
rs34792822	1.00[AMR][1000 genomes]
rs34868623	1.00[AMR][1000 genomes]
rs34973456	1.00[AMR][1000 genomes]
rs34980504	1.00[AMR][1000 genomes]
rs34991197	1.00[AMR][1000 genomes]
rs35136550	1.00[AMR][1000 genomes]
rs35171369	1.00[AMR][1000 genomes]
rs35478855	1.00[AMR][1000 genomes]
rs35590922	1.00[AMR][1000 genomes]
rs35602154	1.00[AMR][1000 genomes]
rs35707409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35713376	1.00[AMR][1000 genomes]
rs35733458	1.00[AMR][1000 genomes]
rs35923573	1.00[AMR][1000 genomes]
rs35966682	1.00[AMR][1000 genomes]
rs36076336	1.00[AMR][1000 genomes]
rs36104847	1.00[AMR][1000 genomes]
rs3806871	1.00[CEU][hapmap]
rs4264950	1.00[CEU][hapmap]
rs4438885	1.00[CEU][hapmap]
rs4498257	1.00[CEU][hapmap]
rs4533897	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs6889653	1.00[CEU][hapmap]
rs6890108	1.00[CEU][hapmap]
rs71629170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71629171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71629172	1.00[AMR][1000 genomes]
rs71629174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71629175	1.00[AMR][1000 genomes]
rs71629177	1.00[AMR][1000 genomes]
rs71629178	1.00[AMR][1000 genomes]
rs71629180	1.00[AMR][1000 genomes]
rs7720858	1.00[CEU][hapmap]

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43444000-43482600	Weak transcription	HMEC	breast
3	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:43454000-43482400	Weak transcription	Osteobl	bone
6	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:43461000-43482400	Weak transcription	NHLF	lung
8	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
10	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
12	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
13	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
15	chr5:43464200-43480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:43465600-43481200	Weak transcription	HepG2	liver
17	chr5:43467000-43482000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:43467000-43482800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:43467200-43482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:43467600-43482400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:43467800-43479800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:43467800-43482400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:43468000-43480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:43468000-43480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:43468000-43482400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:43468000-43482600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:43468000-43482800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:43468200-43482400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:43468200-43482600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:43468200-43482600	Weak transcription	Liver	Liver
31	chr5:43468200-43482600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:43468200-43482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:43468200-43482800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:43468200-43482800	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:43468200-43482800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:43468200-43482800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:43468200-43482800	Weak transcription	Fetal Thymus	thymus
38	chr5:43468200-43482800	Weak transcription	Thymus	Thymus
39	chr5:43468200-43483200	Weak transcription	Aorta	Aorta
40	chr5:43468600-43482400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:43468800-43482800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:43468800-43483400	Weak transcription	Ovary	ovary
43	chr5:43469200-43482400	Weak transcription	Fetal Lung	lung
44	chr5:43470200-43481800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:43470200-43482200	Weak transcription	HSMMtube	muscle
46	chr5:43470200-43483000	Weak transcription	Fetal Intestine Small	intestine
47	chr5:43470600-43477800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:43470600-43480000	Weak transcription	A549	lung
49	chr5:43470600-43483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:43470800-43482200	Weak transcription	HSMM	muscle

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