Variant report

Variant	rs2306353
Chromosome Location	chr11:47256708-47256709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47255922..47259235-chr11:47289768..47291804,3	MCF-7	breast:
2	chr11:47254998..47256741-chr11:47266407..47268575,2	K562	blood:
3	chr11:47251551..47253221-chr11:47255749..47257374,2	K562	blood:
4	chr11:47207072..47208935-chr11:47255110..47257481,3	MCF-7	breast:
5	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
6	chr11:47256660..47260798-chr11:47290143..47292249,4	K562	blood:
7	chr11:47249459..47253221-chr11:47254419..47257374,3	K562	blood:
8	chr11:47235195..47238738-chr11:47253063..47257096,4	K562	blood:
9	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
10	chr11:47240491..47243810-chr11:47254933..47257331,3	MCF-7	breast:
11	chr11:47256660..47261423-chr11:47290143..47292492,5	K562	blood:
12	chr11:47254425..47257069-chr11:47279237..47281162,2	MCF-7	breast:
13	chr11:47254714..47257684-chr11:47290232..47292284,2	MCF-7	breast:
14	chr11:47255507..47257746-chr11:47267199..47270401,3	MCF-7	breast:
15	chr11:47235195..47238586-chr11:47253063..47256921,3	K562	blood:
16	chr11:47250850..47253100-chr11:47255691..47257332,2	MCF-7	breast:
17	chr11:47240521..47243855-chr11:47254261..47256782,3	MCF-7	breast:
18	chr11:47234810..47237015-chr11:47256383..47258909,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256897	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1051006	0.80[CEU][hapmap]
rs10769253	0.80[CEU][hapmap]
rs10838663	1.00[CEU][hapmap]
rs10838681	0.84[AFR][1000 genomes]
rs10838686	0.80[CEU][hapmap]
rs10838689	0.80[CEU][hapmap]
rs11039144	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039148	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039155	0.83[EUR][1000 genomes]
rs12574081	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12574410	1.00[CEU][hapmap]
rs16938581	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279238	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290146	0.82[CEU][hapmap]
rs2290148	0.80[CEU][hapmap]
rs2596397	0.87[AMR][1000 genomes]
rs2596398	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633080	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2633083	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2957873	0.82[CHB][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs326224	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3729802	0.85[CEU][hapmap]
rs3758670	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781619	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781620	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4647725	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4647726	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4647737	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647741	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647754	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4647757	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4752965	1.00[CEU][hapmap]
rs4752972	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752973	0.86[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4752977	0.80[CEU][hapmap]
rs4752983	0.80[CEU][hapmap]
rs7118396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7395496	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753992	0.80[CEU][hapmap]
rs7933246	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947269	0.82[AMR][1000 genomes]
rs830083	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830084	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2306353	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs2306353	ACP2	cis	Thyroid	GTEx
rs2306353	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
4	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
5	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
6	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
7	chr11:47242400-47257800	Weak transcription	K562	blood
8	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:47246400-47256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
17	chr11:47248200-47258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:47248200-47259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:47248200-47265200	Strong transcription	GM12878-XiMat	blood
20	chr11:47248600-47260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:47249400-47259400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:47251200-47259400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:47252000-47259600	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:47253800-47258200	Strong transcription	Fetal Stomach	stomach
25	chr11:47254000-47264600	Strong transcription	Dnd41	blood
26	chr11:47254200-47256800	Enhancers	Stomach Mucosa	stomach
27	chr11:47254200-47258800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:47254400-47257200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:47254400-47257200	Strong transcription	Primary T cells from cord blood	blood
30	chr11:47254600-47257000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:47254600-47257200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:47254600-47258200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:47254600-47267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:47254800-47257400	Genic enhancers	HMEC	breast
35	chr11:47254800-47259200	Weak transcription	Lung	lung
36	chr11:47254800-47259400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr11:47254800-47259400	Weak transcription	Esophagus	oesophagus
38	chr11:47254800-47261000	Weak transcription	Ovary	ovary
39	chr11:47255000-47256800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:47255200-47257200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:47255200-47257200	Genic enhancers	NHLF	lung
42	chr11:47255400-47256800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:47255400-47257000	Enhancers	HSMMtube	muscle
44	chr11:47255400-47257200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:47255400-47262000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:47255400-47269200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:47255600-47256800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:47255600-47257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:47255600-47257200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:47255600-47257200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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