Variant report

Variant	rs59631865
Chromosome Location	chr11:47501619-47501620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47492716..47498082-chr11:47498479..47503693,7	MCF-7	breast:
2	chr11:47500961..47505099-chr11:47507828..47511495,3	K562	blood:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1044269	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11819955	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11820650	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11821273	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11821860	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11821917	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11822402	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11823490	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11824864	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11824971	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11824990	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11827106	0.81[ASN][1000 genomes]
rs11828339	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17198158	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17790804	0.91[ASN][1000 genomes]
rs2242511	0.87[ASN][1000 genomes]
rs3781628	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847503	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4384349	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752783	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4752839	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752843	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752992	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60882887	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60929305	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61000762	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7115371	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs753812	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9666924	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9733983	0.82[AFR][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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr11:47480000-47510000	Strong transcription	Thymus	Thymus
2	chr11:47480600-47508400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:47480800-47511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:47480800-47511400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47483400-47508800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:47483600-47511400	Strong transcription	Dnd41	blood
7	chr11:47484800-47504800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47484800-47510600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:47484800-47511000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47485200-47511400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:47485400-47504800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:47485400-47511400	Strong transcription	Primary B cells from cord blood	blood
13	chr11:47485600-47511000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:47486000-47510000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:47486200-47511200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:47486200-47511200	Strong transcription	Primary T cells from cord blood	blood
18	chr11:47486400-47510200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:47487800-47507400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:47488200-47510800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:47488200-47511200	Strong transcription	GM12878-XiMat	blood
22	chr11:47488400-47509000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:47488400-47509800	Strong transcription	Placenta	Placenta
24	chr11:47488800-47510800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:47489200-47508400	Strong transcription	Fetal Stomach	stomach
26	chr11:47489200-47508800	Strong transcription	Spleen	Spleen
27	chr11:47489200-47510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
29	chr11:47489400-47510800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:47489800-47509200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:47489800-47510000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:47489800-47510600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:47490000-47509000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr11:47490000-47510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47490000-47511000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:47490600-47508800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:47490600-47509400	Strong transcription	Fetal Lung	lung
38	chr11:47490800-47510800	Strong transcription	HSMMtube	muscle
39	chr11:47491000-47507200	Strong transcription	Colonic Mucosa	Colon
40	chr11:47491000-47509000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:47491200-47508800	Strong transcription	Fetal Brain Female	brain
42	chr11:47491400-47510600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:47491400-47510600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:47491400-47511000	Strong transcription	A549	lung
45	chr11:47491400-47512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:47491600-47509600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:47491600-47509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:47491600-47510000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:47491600-47511400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:47491800-47511400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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