Variant report

Variant	rs61280057
Chromosome Location	chr11:47937171-47937172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47933639..47935365-chr11:47935949..47938234,2	K562	blood:
2	chr11:47936350..47939236-chr11:47942544..47946300,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1807195	1.00[AMR][1000 genomes]
rs57639610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57715874	1.00[AFR][1000 genomes]
rs58321258	1.00[AMR][1000 genomes]
rs58448918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60139548	1.00[AMR][1000 genomes]
rs60354180	1.00[AFR][1000 genomes]
rs60637944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60974919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61268975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61380628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61638533	1.00[AFR][1000 genomes]
rs73453051	1.00[AMR][1000 genomes]
rs73458850	1.00[AFR][1000 genomes]
rs73458857	0.84[AFR][1000 genomes]
rs73460984	1.00[AMR][1000 genomes]
rs73460994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73461000	1.00[AMR][1000 genomes]
rs73462805	1.00[AMR][1000 genomes]
rs73462855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47925600-47943200	Enhancers	Placenta	Placenta
2	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47930200-47938000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:47931200-47939000	Enhancers	Hela-S3	cervix
5	chr11:47931400-47937200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:47931600-47939600	Weak transcription	NHDF-Ad	bronchial
7	chr11:47931600-47939600	Weak transcription	Osteobl	bone
8	chr11:47933000-47939600	Enhancers	A549	lung
9	chr11:47933400-47938000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
11	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:47934800-47938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:47935000-47937800	Enhancers	K562	blood
14	chr11:47935200-47938200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:47935200-47938400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:47935200-47939000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:47935400-47937600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:47935400-47938000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:47935400-47938200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:47935400-47944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:47935600-47937400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:47935600-47937600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:47935600-47937800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:47935600-47938000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:47935600-47941200	Enhancers	HUVEC	blood vessel
26	chr11:47935800-47937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:47935800-47938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:47935800-47939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:47935800-47939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47936000-47938000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:47936200-47938000	Enhancers	HepG2	liver
32	chr11:47936400-47937200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:47936400-47937400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:47936400-47937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:47936400-47938200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:47936400-47938400	Enhancers	Primary T cells from cord blood	blood
37	chr11:47936400-47939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:47936400-47941200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:47936600-47937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:47936600-47937400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:47936600-47937800	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:47936600-47938200	Enhancers	Brain Germinal Matrix	brain
43	chr11:47936600-47939600	Enhancers	Thymus	Thymus
44	chr11:47936600-47941800	Enhancers	Fetal Thymus	thymus
45	chr11:47936800-47937200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:47936800-47937400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:47936800-47937400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:47936800-47937600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:47936800-47937600	Enhancers	GM12878-XiMat	blood
50	chr11:47936800-47938000	Enhancers	Right Atrium	heart

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