Variant report

Variant	rs519374
Chromosome Location	chr11:63474662-63474663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63466075..63469317-chr11:63473258..63477515,3	MCF-7	breast:
2	chr11:63471459..63475657-chr11:63475722..63478303,6	K562	blood:
3	chr11:63447689..63449783-chr11:63472208..63474899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271100	Chromatin interaction
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1199383	1.00[AMR][1000 genomes]
rs1301131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158455	1.00[YRI][hapmap]
rs17158456	0.85[YRI][hapmap]
rs2510524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957254	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957255	1.00[AMR][1000 genomes]
rs2957256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489580	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496346	1.00[AFR][1000 genomes]
rs496354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	0.85[YRI][hapmap]
rs501095	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502017	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502717	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509932	1.00[YRI][hapmap]
rs512073	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516068	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516981	1.00[AMR][1000 genomes]
rs518304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs518453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs520640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs538627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542124	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573083	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs622400	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694024	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897628	chr11:63456478-63508334	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:63451200-63475000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:63451200-63478000	Weak transcription	HSMM	muscle
4	chr11:63451200-63486400	Weak transcription	Primary T cells from cord blood	blood
5	chr11:63451400-63478000	Weak transcription	HSMMtube	muscle
6	chr11:63452000-63486400	Weak transcription	Fetal Thymus	thymus
7	chr11:63454800-63476600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:63455600-63476200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:63456800-63490000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:63457000-63476400	Weak transcription	A549	lung
11	chr11:63457000-63482600	Weak transcription	HepG2	liver
12	chr11:63459600-63516600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:63463200-63475600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:63463200-63482000	Weak transcription	Dnd41	blood
15	chr11:63463200-63516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:63464200-63489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:63466200-63490000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63466800-63486800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:63467000-63478000	Weak transcription	Right Atrium	heart
20	chr11:63467200-63481600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:63467400-63476400	Weak transcription	NHEK	skin
22	chr11:63467400-63477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:63467400-63478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:63467400-63481400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:63467400-63486600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:63467400-63497200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:63467600-63475600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:63467600-63477200	Weak transcription	K562	blood
29	chr11:63467600-63477600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:63467600-63478000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:63467600-63485800	Weak transcription	Hela-S3	cervix
32	chr11:63467600-63486200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:63467600-63486400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:63467600-63486400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:63467600-63486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:63467600-63488200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:63467600-63489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:63467600-63489800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:63467600-63516000	Weak transcription	Thymus	Thymus
40	chr11:63467600-63517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:63467800-63486200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:63467800-63486400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:63468000-63477000	Weak transcription	Placenta	Placenta
44	chr11:63468200-63480800	Weak transcription	Fetal Brain Female	brain
45	chr11:63468800-63476600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:63469200-63477600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:63469200-63486400	Weak transcription	Psoas Muscle	Psoas
48	chr11:63469400-63476400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:63469400-63482000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:63469400-63497600	Weak transcription	Left Ventricle	heart

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