Variant report

Variant	rs60929305
Chromosome Location	chr11:47523589-47523590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47522240..47523818-chr11:47530043..47531657,2	K562	blood:
2	chr11:47515511..47517710-chr11:47521817..47524345,2	MCF-7	breast:
3	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:
4	chr11:47521843..47524187-chr11:47526565..47529247,2	MCF-7	breast:

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:29)

rs_ID	r²[population]
rs1044269	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039278	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11819955	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11820650	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11821273	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11821860	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11821917	0.82[EUR][1000 genomes]
rs11822402	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11823490	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11824864	0.82[EUR][1000 genomes]
rs11824971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11824990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11828339	0.81[EUR][1000 genomes]
rs17198158	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17790804	0.84[ASN][1000 genomes]
rs2242511	0.81[ASN][1000 genomes]
rs3781628	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3847503	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4384349	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4752783	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752839	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752992	0.81[EUR][1000 genomes]
rs59631865	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60882887	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61000762	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115371	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753812	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9666924	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv972949	chr11:47521522-47525037	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
2	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
6	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:47515600-47528200	Weak transcription	NH-A	brain
12	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
13	chr11:47517600-47523800	Enhancers	Colon Smooth Muscle	Colon
14	chr11:47518600-47526200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:47519200-47526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:47519200-47527000	Strong transcription	Hela-S3	cervix
18	chr11:47519600-47524800	Enhancers	Brain Anterior Caudate	brain
19	chr11:47520000-47525000	Weak transcription	Fetal Intestine Small	intestine
20	chr11:47520000-47528200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:47520400-47524000	Strong transcription	HSMM	muscle
22	chr11:47520400-47526000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:47520400-47528800	Weak transcription	Thymus	Thymus
24	chr11:47520400-47529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:47520800-47523600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:47521000-47525000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:47521200-47527000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:47521400-47523600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:47521400-47525400	Weak transcription	Fetal Stomach	stomach
30	chr11:47521600-47525400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:47521600-47526000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:47521600-47528600	Weak transcription	A549	lung
33	chr11:47521600-47529800	Weak transcription	Gastric	stomach
34	chr11:47521600-47530200	Weak transcription	Right Ventricle	heart
35	chr11:47521600-47531000	Weak transcription	Lung	lung
36	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
37	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
38	chr11:47521800-47524000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:47521800-47527800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:47521800-47528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:47521800-47528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:47521800-47528000	Weak transcription	Ovary	ovary
43	chr11:47521800-47528000	Weak transcription	Stomach Mucosa	stomach
44	chr11:47521800-47529000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:47521800-47529200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
47	chr11:47522000-47528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:47522000-47528200	Weak transcription	NHDF-Ad	bronchial
49	chr11:47522200-47523800	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:47522200-47528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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