Variant report

Variant	rs2957254
Chromosome Location	chr11:63491601-63491602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63485679..63487280-chr11:63490082..63491606,2	K562	blood:
2	chr11:63491486..63493136-chr11:63493554..63496551,2	K562	blood:
3	chr11:63485183..63488338-chr11:63489769..63491741,3	K562	blood:
4	chr11:63490375..63492771-chr11:63512457..63514550,2	MCF-7	breast:
5	chr11:63490112..63492850-chr11:63521097..63523748,2	K562	blood:

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]
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]
rs519374	1.00[YRI][hapmap];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:66 , 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	chr11:63459600-63516600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:63463200-63516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:63467400-63497200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:63467600-63516000	Weak transcription	Thymus	Thymus
6	chr11:63467600-63517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:63469400-63497600	Weak transcription	Left Ventricle	heart
8	chr11:63473000-63516000	Weak transcription	Lung	lung
9	chr11:63473000-63518000	Weak transcription	Aorta	Aorta
10	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
11	chr11:63474800-63501200	Weak transcription	Fetal Stomach	stomach
12	chr11:63477400-63498000	Weak transcription	NHLF	lung
13	chr11:63478400-63492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:63478400-63493600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:63478400-63496000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:63478400-63496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:63478800-63495200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:63478800-63517200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:63479600-63493000	Weak transcription	Placenta	Placenta
20	chr11:63480600-63509000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:63481000-63501000	Weak transcription	Fetal Brain Female	brain
22	chr11:63481000-63517600	Weak transcription	Spleen	Spleen
23	chr11:63481600-63505800	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:63481800-63512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:63482400-63505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:63483400-63517000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:63483600-63494000	Weak transcription	HepG2	liver
28	chr11:63484000-63504600	Weak transcription	A549	lung
29	chr11:63484600-63494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:63486200-63519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63487000-63505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:63487000-63506200	Weak transcription	NHEK	skin
33	chr11:63487000-63516800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:63487400-63501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:63487400-63505200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:63487400-63505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:63487400-63506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:63487400-63516000	Weak transcription	Fetal Thymus	thymus
39	chr11:63487400-63516600	Weak transcription	Dnd41	blood
40	chr11:63487400-63517000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:63487400-63517600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:63487600-63495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:63487600-63501000	Weak transcription	Psoas Muscle	Psoas
44	chr11:63487600-63505200	Weak transcription	NHDF-Ad	bronchial
45	chr11:63487600-63513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:63487800-63495600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:63487800-63516600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:63488000-63493400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:63488000-63505000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:63488000-63505400	Weak transcription	Primary hematopoietic stem cells	blood

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