Variant report

Variant	rs474073
Chromosome Location	chr11:57560486-57560487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57554543..57556933-chr11:57559268..57561458,2	MCF-7	breast:
2	chr11:57548767..57550342-chr11:57559467..57561376,2	K562	blood:
3	chr11:57547662..57550342-chr11:57558966..57560967,3	K562	blood:
4	chr11:57528372..57531889-chr11:57558761..57560995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10444364	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10750868	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	1.00[AMR][1000 genomes]
rs1313360	1.00[ASN][1000 genomes]
rs1553827	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2441951	1.00[ASN][1000 genomes]
rs2441957	1.00[ASN][1000 genomes]
rs2860261	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	1.00[ASN][1000 genomes]
rs474464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	1.00[ASN][1000 genomes]
rs523739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs529838	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs542777	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs554140	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557051	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57201273	1.00[ASN][1000 genomes]
rs57260887	1.00[ASN][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	1.00[ASN][1000 genomes]
rs58851976	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs627861	1.00[ASN][1000 genomes]
rs635663	1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7105331	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122105	0.87[AMR][1000 genomes]
rs7131175	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73474476	1.00[ASN][1000 genomes]
rs73482748	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57546800-57564000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:57554800-57561600	Enhancers	Small Intestine	intestine
3	chr11:57555400-57563200	Weak transcription	Fetal Brain Male	brain
4	chr11:57555600-57562800	Weak transcription	Ovary	ovary
5	chr11:57556000-57562400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:57556000-57562400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:57556200-57560800	Weak transcription	NH-A	brain
9	chr11:57556200-57561200	Weak transcription	NHDF-Ad	bronchial
10	chr11:57556400-57560600	Genic enhancers	HepG2	liver
11	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57556600-57560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57556600-57563000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:57557200-57561400	Genic enhancers	Fetal Intestine Large	intestine
15	chr11:57557200-57561600	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:57557200-57561800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:57557200-57566200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:57557200-57566200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:57558200-57560800	Enhancers	Fetal Thymus	thymus
20	chr11:57558200-57561600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:57558400-57560600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:57558400-57560800	Flanking Active TSS	HMEC	breast
23	chr11:57558400-57560800	Genic enhancers	K562	blood
24	chr11:57558400-57562600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:57558400-57567200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:57558400-57567400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:57558600-57560600	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr11:57558600-57560800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:57558600-57561600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:57558600-57561600	Genic enhancers	Liver	Liver
31	chr11:57558600-57561600	Genic enhancers	Colon Smooth Muscle	Colon
32	chr11:57558600-57561600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr11:57558600-57567200	Strong transcription	Fetal Brain Female	brain
34	chr11:57558800-57560800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:57558800-57560800	Enhancers	Thymus	Thymus
36	chr11:57558800-57563000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:57559000-57561200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:57559000-57561400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:57559200-57560600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:57559200-57561000	Genic enhancers	Fetal Kidney	kidney
41	chr11:57559200-57561200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr11:57559200-57561200	Genic enhancers	Osteobl	bone
43	chr11:57559400-57560600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:57559400-57560800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:57559400-57560800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:57559400-57560800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:57559400-57561000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:57559400-57561000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:57559400-57561000	Genic enhancers	Fetal Lung	lung
50	chr11:57559400-57561000	Enhancers	Sigmoid Colon	Sigmoid Colon

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