Variant report

Variant	rs11741283
Chromosome Location	chr5:127287249-127287250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127286727..127288267-chr5:127302316..127305106,2	MCF-7	breast:
2	chr5:127277558..127280504-chr5:127284897..127288204,4	MCF-7	breast:
3	chr5:127269737..127272563-chr5:127286777..127288536,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10037914	0.87[ASN][1000 genomes]
rs10041355	0.80[ASN][1000 genomes]
rs10041388	0.80[ASN][1000 genomes]
rs10050374	0.91[EUR][1000 genomes]
rs10057561	0.85[EUR][1000 genomes]
rs10065448	0.87[ASN][1000 genomes]
rs10074995	0.92[ASN][1000 genomes]
rs10079317	0.92[ASN][1000 genomes]
rs10463834	0.90[ASN][1000 genomes]
rs10478786	0.80[ASN][1000 genomes]
rs10900794	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738398	0.87[EUR][1000 genomes]
rs11740438	0.92[ASN][1000 genomes]
rs11740439	0.94[ASN][1000 genomes]
rs12517005	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653621	0.85[ASN][1000 genomes]
rs12658023	0.94[ASN][1000 genomes]
rs13160751	0.89[EUR][1000 genomes]
rs13174053	0.80[ASN][1000 genomes]
rs13180050	0.80[ASN][1000 genomes]
rs13361741	0.92[ASN][1000 genomes]
rs2011576	0.89[EUR][1000 genomes]
rs2108654	0.80[ASN][1000 genomes]
rs2409037	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409038	0.80[ASN][1000 genomes]
rs2409039	0.80[ASN][1000 genomes]
rs28473744	0.92[ASN][1000 genomes]
rs28542972	0.92[ASN][1000 genomes]
rs28567046	0.92[ASN][1000 genomes]
rs28591675	0.94[ASN][1000 genomes]
rs28636438	0.92[ASN][1000 genomes]
rs28687461	0.92[ASN][1000 genomes]
rs28736542	0.92[ASN][1000 genomes]
rs28816429	0.92[ASN][1000 genomes]
rs2898077	0.80[ASN][1000 genomes]
rs4835934	0.80[ASN][1000 genomes]
rs4836344	0.82[EUR][1000 genomes]
rs4836346	0.89[EUR][1000 genomes]
rs4836348	0.91[EUR][1000 genomes]
rs55896045	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634534	0.80[ASN][1000 genomes]
rs6871743	0.86[EUR][1000 genomes]
rs6877403	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881456	0.80[ASN][1000 genomes]
rs6889756	0.88[EUR][1000 genomes]
rs6892704	0.80[ASN][1000 genomes]
rs6898956	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732235	0.80[ASN][1000 genomes]
rs732236	0.80[ASN][1000 genomes]
rs758181	0.85[EUR][1000 genomes]
rs7706518	0.91[EUR][1000 genomes]
rs7717741	0.90[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:127271200-127294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127274800-127295000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127274800-127296000	Weak transcription	Primary B cells from cord blood	blood
6	chr5:127278400-127292800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:127278400-127292800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:127278400-127292800	Weak transcription	HSMM	muscle
9	chr5:127278400-127294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:127278400-127295600	Weak transcription	HSMMtube	muscle
11	chr5:127280200-127292800	Weak transcription	Gastric	stomach
12	chr5:127281800-127295400	Weak transcription	Psoas Muscle	Psoas
13	chr5:127285200-127295200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:127285800-127303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:127286400-127287400	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:127286400-127287600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:127286600-127287400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:127286600-127295200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:127286800-127292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:127287000-127288200	Strong transcription	Primary T cells from cord blood	blood
21	chr5:127287000-127292200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:127287000-127292600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:127287200-127288000	Enhancers	A549	lung

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