Variant report

Variant	rs11959811
Chromosome Location	chr5:43511565-43511566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
2	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
3	chr5:43482302..43485563-chr5:43510151..43513746,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28437972	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4072918	0.81[EUR][1000 genomes]
rs4072919	0.81[EUR][1000 genomes]
rs4074777	0.81[EUR][1000 genomes]
rs55855322	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57403343	0.81[EUR][1000 genomes]
rs6885679	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7710628	0.82[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	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:43484800-43514600	Weak transcription	Ovary	ovary
3	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
4	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
8	chr5:43485200-43513200	Weak transcription	NHLF	lung
9	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
11	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:43485200-43513600	Weak transcription	HSMM	muscle
14	chr5:43485200-43513600	Weak transcription	NH-A	brain
15	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:43485400-43514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:43485800-43514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:43486000-43514200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:43486400-43513400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:43486400-43513600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:43486800-43512200	Weak transcription	HepG2	liver
22	chr5:43486800-43513400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:43487600-43513600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:43490400-43513600	Weak transcription	Primary B cells from cord blood	blood
25	chr5:43492000-43514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:43495000-43513000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:43495000-43514600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:43498200-43513800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:43498200-43514000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:43498200-43514200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:43498200-43514200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:43498400-43513600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:43499400-43513600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:43499400-43514600	Weak transcription	Left Ventricle	heart
35	chr5:43499800-43514600	Weak transcription	Aorta	Aorta
36	chr5:43500000-43513400	Weak transcription	Fetal Heart	heart
37	chr5:43501600-43513600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:43501600-43514200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:43502000-43513600	Weak transcription	Fetal Kidney	kidney
40	chr5:43502200-43513600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43502200-43514600	Weak transcription	Esophagus	oesophagus
42	chr5:43503200-43514200	Weak transcription	HSMMtube	muscle
43	chr5:43503400-43513400	Weak transcription	A549	lung
44	chr5:43503400-43513400	Weak transcription	Osteobl	bone
45	chr5:43504200-43514200	Weak transcription	Liver	Liver
46	chr5:43504200-43514600	Weak transcription	Lung	lung
47	chr5:43505600-43513600	Weak transcription	Brain Germinal Matrix	brain
48	chr5:43506000-43514200	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:43506000-43514400	Weak transcription	Colonic Mucosa	Colon
50	chr5:43506200-43512200	Weak transcription	GM12878-XiMat	blood

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