Variant report

Variant	rs7940413
Chromosome Location	chr11:47561837-47561838
allele	G/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47556312..47559007-chr11:47559496..47562082,2	MCF-7	breast:
2	chr11:47560470..47563383-chr11:47586492..47588638,2	MCF-7	breast:
3	chr11:47443547..47446409-chr11:47561688..47563935,2	K562	blood:
4	chr11:47560397..47564902-chr11:47572106..47576382,5	K562	blood:
5	chr11:47557985..47562133-chr11:47565496..47569267,5	K562	blood:
6	chr11:47557144..47558701-chr11:47561698..47563428,2	K562	blood:
7	chr11:47559425..47562180-chr11:47787809..47790280,2	MCF-7	breast:
8	chr11:47556325..47561893-chr11:47562676..47568878,7	K562	blood:
9	chr11:47546300..47548037-chr11:47559211..47561891,2	K562	blood:
10	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap]
rs10769273	1.00[AFR][1000 genomes]
rs2020057	1.00[YRI][hapmap]
rs2233358	1.00[AFR][1000 genomes]
rs2868603	1.00[YRI][hapmap]
rs35920762	1.00[AFR][1000 genomes]
rs4752991	1.00[YRI][hapmap]
rs4752995	1.00[YRI][hapmap]
rs6485754	1.00[YRI][hapmap]
rs6485757	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7105005	1.00[YRI][hapmap]
rs7116487	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[AFR][1000 genomes]
rs7933674	1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap]
rs9666418	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs967829	1.00[AFR][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	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546400-47564200	Weak transcription	Thymus	Thymus
3	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
4	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47547800-47562000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47551000-47563200	Enhancers	Fetal Brain Male	brain
7	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:47554400-47572400	Weak transcription	Aorta	Aorta
9	chr11:47554800-47571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:47554800-47572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:47557600-47565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:47557800-47563000	Enhancers	Adipose Nuclei	Adipose
13	chr11:47557800-47567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:47558000-47562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:47558800-47565600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:47559000-47566200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:47559000-47567000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:47559000-47571800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:47559400-47562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47559400-47562800	Enhancers	Brain Germinal Matrix	brain
22	chr11:47559400-47566200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:47559600-47562200	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:47559600-47562800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:47559800-47562200	Enhancers	Fetal Stomach	stomach
27	chr11:47559800-47562600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:47559800-47562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:47560000-47562600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:47560000-47562600	Enhancers	Fetal Lung	lung
31	chr11:47560200-47562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:47560200-47562600	Enhancers	Fetal Brain Female	brain
33	chr11:47560200-47562600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:47560200-47563000	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:47560200-47563000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:47560200-47563000	Enhancers	Brain Angular Gyrus	brain
37	chr11:47560200-47563000	Enhancers	Brain Hippocampus Middle	brain
38	chr11:47560400-47562000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:47560400-47562000	Enhancers	Brain Anterior Caudate	brain
40	chr11:47560400-47562000	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:47560400-47562200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:47560400-47562200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:47560400-47562200	Flanking Active TSS	NHEK	skin
44	chr11:47560400-47562400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:47560400-47562600	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:47560400-47562600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:47560400-47562600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:47560400-47562600	Enhancers	Fetal Heart	heart
49	chr11:47560400-47562600	Enhancers	Ovary	ovary
50	chr11:47560400-47562600	Enhancers	Right Atrium	heart

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