Variant report

Variant	rs4508184
Chromosome Location	chr11:35282096-35282097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35279012..35286392-chr11:35294737..35300890,10	MCF-7	breast:
2	chr11:35280014..35285090-chr11:35412088..35415587,8	MCF-7	breast:
3	chr11:35281817..35285244-chr11:35384315..35387489,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10128586	0.81[CEU][hapmap]
rs10488813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836343	0.81[CEU][hapmap]
rs10836347	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs10836349	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836352	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836353	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033031	1.00[CEU][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.90[EUR][1000 genomes]
rs11033034	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033039	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033042	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033043	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12360706	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12364027	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575005	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1570216	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812778	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55715534	0.82[EUR][1000 genomes]
rs56193087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67384276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104662	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7122374	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72638195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72916162	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4508184	CD44	cis	lymphoblastoid	seeQTL
rs4508184	RAG2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35265800-35305800	Weak transcription	HepG2	liver
2	chr11:35270200-35292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:35270400-35285400	Weak transcription	Brain Germinal Matrix	brain
4	chr11:35270400-35296400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:35270400-35307000	Weak transcription	Fetal Brain Male	brain
6	chr11:35270600-35284400	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:35271200-35286400	Weak transcription	Pancreas	Pancrea
8	chr11:35274600-35287400	Weak transcription	HSMMtube	muscle
9	chr11:35277400-35282400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:35277800-35286800	Weak transcription	Liver	Liver
11	chr11:35279000-35285600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:35281000-35283000	Enhancers	Fetal Stomach	stomach
13	chr11:35281000-35283000	Enhancers	Rectal Smooth Muscle	rectum
14	chr11:35281000-35283000	Enhancers	NHDF-Ad	bronchial
15	chr11:35281000-35283400	Strong transcription	Fetal Brain Female	brain
16	chr11:35281200-35283800	Enhancers	NHLF	lung
17	chr11:35281400-35282800	Enhancers	Colon Smooth Muscle	Colon
18	chr11:35281400-35283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:35281800-35282200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:35281800-35282200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:35281800-35282400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:35281800-35283000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:35281800-35283000	Enhancers	NH-A	brain
24	chr11:35281800-35283000	Enhancers	Osteobl	bone
25	chr11:35282000-35282200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr11:35282000-35282200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:35282000-35282400	Active TSS	Aorta	Aorta
28	chr11:35282000-35282600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:35282000-35282600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:35282000-35282600	Flanking Active TSS	A549	lung
31	chr11:35282000-35282600	Enhancers	Hela-S3	cervix
32	chr11:35282000-35282800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:35282000-35282800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:35282000-35282800	Enhancers	HSMM	muscle

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