Variant report

Variant	rs11731592
Chromosome Location	chr4:78099470-78099471
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78093090..78096475-chr4:78097818..78101678,3	MCF-7	breast:
2	chr4:77993628..77998489-chr4:78099407..78102075,4	MCF-7	breast:
3	chr4:78092684..78094555-chr4:78098278..78100487,2	MCF-7	breast:
4	chr4:78089519..78092376-chr4:78099146..78100867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10025838	0.95[EUR][1000 genomes]
rs11097704	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12504752	0.96[ASN][1000 genomes]
rs12509168	0.95[EUR][1000 genomes]
rs12640093	0.95[EUR][1000 genomes]
rs28464714	0.82[ASN][1000 genomes]
rs4241604	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4280759	0.95[EUR][1000 genomes]
rs4365751	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4382065	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4518274	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4547817	0.95[EUR][1000 genomes]
rs4558892	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4563522	0.95[EUR][1000 genomes]
rs4859473	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859756	0.87[EUR][1000 genomes]
rs6532867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532868	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532870	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532871	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846698	0.95[EUR][1000 genomes]
rs7654920	0.89[ASN][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	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78084600-78102200	Weak transcription	Spleen	Spleen
2	chr4:78087400-78100600	Weak transcription	Hela-S3	cervix
3	chr4:78089400-78108000	Weak transcription	Left Ventricle	heart
4	chr4:78090400-78109800	Weak transcription	Gastric	stomach
5	chr4:78091800-78105000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:78092200-78106000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:78092400-78100200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:78092400-78100400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:78092400-78100800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:78092600-78100800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:78092600-78108600	Weak transcription	Thymus	Thymus
12	chr4:78094400-78114200	Weak transcription	Primary B cells from cord blood	blood
13	chr4:78095400-78101200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:78096200-78100200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:78096400-78100000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:78096400-78100200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:78096800-78108200	Weak transcription	Fetal Brain Female	brain
18	chr4:78097400-78101200	Enhancers	Fetal Muscle Leg	muscle
19	chr4:78097600-78101000	Enhancers	HSMMtube	muscle
20	chr4:78098000-78099800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr4:78098000-78100800	Weak transcription	Esophagus	oesophagus
22	chr4:78098200-78099600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:78098200-78099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:78098200-78100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:78098200-78101000	Enhancers	HSMM	muscle
26	chr4:78098600-78100000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:78098800-78099800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:78098800-78100000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:78099000-78108000	Weak transcription	Brain Germinal Matrix	brain
30	chr4:78099200-78099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:78099400-78099800	Weak transcription	Placenta	Placenta
32	chr4:78099400-78100000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr4:78099400-78100400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:78099400-78109800	Weak transcription	Fetal Stomach	stomach
35	chr4:78099400-78111200	Weak transcription	NHEK	skin

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