Variant report

Variant	rs73480948
Chromosome Location	chr11:64976301-64976302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:64976190-64976841	NB4	blood:	n/a	chr11:64976343-64976352 chr11:64976343-64976352 chr11:64976342-64976353 chr11:64976342-64976353 chr11:64976343-64976352
2	USF1	chr11:64976263-64976445	K562	blood:	n/a	n/a
3	POLR2A	chr11:64976072-64976507	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64900055..64903404-chr11:64975247..64978493,3	K562	blood:
2	chr11:64879391..64881748-chr11:64974294..64977624,3	K562	blood:
3	chr11:64884257..64886940-chr11:64972599..64976618,4	MCF-7	breast:
4	chr11:64970739..64974089-chr11:64974208..64977287,3	MCF-7	breast:
5	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
6	chr11:64887177..64889563-chr11:64975321..64976932,2	K562	blood:
7	chr11:64900971..64903400-chr11:64973155..64976950,3	MCF-7	breast:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000162298	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11824855	1.00[AMR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826089	1.00[AMR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885792	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885809	1.00[AMR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs60034183	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	1.00[EUR][1000 genomes]
rs7927821	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
2	chr11:64951400-64979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:64951600-64976400	Weak transcription	Fetal Brain Male	brain
4	chr11:64951600-64979600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:64952400-64980200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
7	chr11:64952800-64978000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:64953600-64978600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:64962800-64976800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:64964200-64980000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:64964400-64979800	Strong transcription	Fetal Stomach	stomach
12	chr11:64964400-64981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:64965600-64977800	Strong transcription	Fetal Thymus	thymus
14	chr11:64969400-64976800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:64969400-64980000	Strong transcription	HMEC	breast
16	chr11:64969800-64979400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:64969800-64980000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:64970000-64979200	Strong transcription	Adipose Nuclei	Adipose
19	chr11:64970000-64979600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:64970000-64979600	Strong transcription	Thymus	Thymus
21	chr11:64970000-64979800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:64970000-64980200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:64970200-64979600	Strong transcription	Fetal Brain Female	brain
24	chr11:64970200-64979600	Strong transcription	NHEK	skin
25	chr11:64970200-64979800	Strong transcription	Ovary	ovary
26	chr11:64970400-64979800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:64970800-64977400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:64971000-64977600	Strong transcription	GM12878-XiMat	blood
29	chr11:64971000-64980000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:64971000-64980200	Strong transcription	Gastric	stomach
31	chr11:64971200-64978600	Strong transcription	Primary T cells from cord blood	blood
32	chr11:64971400-64979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:64971400-64979800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:64971400-64980000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64971400-64980000	Strong transcription	Pancreas	Pancrea
36	chr11:64971400-64980200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:64971400-64980200	Strong transcription	NHLF	lung
38	chr11:64971600-64979400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:64971600-64979600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:64971600-64980000	Strong transcription	Right Ventricle	heart
41	chr11:64971600-64980400	Strong transcription	Esophagus	oesophagus
42	chr11:64971800-64978600	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:64971800-64979200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:64971800-64979800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:64971800-64980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:64972000-64979000	Strong transcription	Dnd41	blood
47	chr11:64972000-64979200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr11:64972000-64979200	Strong transcription	Aorta	Aorta
49	chr11:64972000-64979600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr11:64972000-64979800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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