Variant report

Variant	rs2048954
Chromosome Location	chr11:76617646-76617647
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76571420..76573051-chr11:76616236..76618348,2	K562	blood:
2	chr11:76612882..76614923-chr11:76616382..76618272,3	K562	blood:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10899293	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236997	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237030	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11602065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11605656	0.88[AFR][1000 genomes]
rs11606034	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11606467	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12223477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797827	0.80[ASN][1000 genomes]
rs17812687	0.80[AFR][1000 genomes]
rs1945084	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1945085	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2187499	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2279518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2372387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740766	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs3740768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4016126	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4944130	0.80[AFR][1000 genomes]
rs4945128	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs55743360	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55798841	0.80[EUR][1000 genomes]
rs55977032	0.80[AFR][1000 genomes]
rs56129156	0.80[EUR][1000 genomes]
rs56789915	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61895512	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61895513	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61900090	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61900119	0.80[AFR][1000 genomes]
rs61900120	0.80[AFR][1000 genomes]
rs7115729	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118398	0.80[AFR][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	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76597000-76631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:76608800-76622600	Weak transcription	Left Ventricle	heart
3	chr11:76613600-76631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:76613800-76618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:76613800-76622200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:76613800-76622600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:76615000-76620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:76615600-76622200	Weak transcription	Small Intestine	intestine
9	chr11:76615600-76631200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:76616400-76617800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr11:76617000-76617800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr11:76617000-76618200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:76617200-76617800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:76617200-76617800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr11:76617400-76618600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:76617600-76622400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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