Variant report

Variant	rs2010519
Chromosome Location	chr11:47431728-47431729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr11:47428857-47432915	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:47431637-47431767	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
2	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
3	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
4	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
5	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
6	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
7	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
8	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255197	TF binding region
SLC39A13	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000256746	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11039213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570119	1.00[AMR][1000 genomes]
rs12099130	1.00[AMR][1000 genomes]
rs12099427	1.00[AMR][1000 genomes]
rs2019870	0.97[AFR][1000 genomes]
rs2053978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176403	1.00[AMR][1000 genomes]
rs34037785	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35976340	1.00[AMR][1000 genomes]
rs4647717	1.00[AMR][1000 genomes]
rs4647745	1.00[AMR][1000 genomes]
rs57572703	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	1.00[AMR][1000 genomes]
rs59726655	1.00[AMR][1000 genomes]
rs60183400	1.00[AMR][1000 genomes]
rs60580032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs896814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908597	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	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
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	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
10	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	chr11:47430200-47431800	Flanking Active TSS	Colonic Mucosa	Colon
2	chr11:47430400-47431800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:47430400-47431800	Flanking Active TSS	Placenta	Placenta
4	chr11:47430400-47431800	Flanking Active TSS	Hela-S3	cervix
5	chr11:47430400-47432000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:47430600-47431800	Flanking Active TSS	Brain Angular Gyrus	brain
7	chr11:47430600-47431800	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr11:47430600-47432000	Flanking Active TSS	HMEC	breast
9	chr11:47430600-47432000	Flanking Active TSS	HSMMtube	muscle
10	chr11:47430600-47432000	Flanking Active TSS	Osteobl	bone
11	chr11:47430600-47432200	Flanking Active TSS	NH-A	brain
12	chr11:47430800-47431800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:47430800-47431800	Enhancers	Spleen	Spleen
14	chr11:47430800-47431800	Flanking Active TSS	HepG2	liver
15	chr11:47430800-47432000	Enhancers	Gastric	stomach
16	chr11:47430800-47432200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:47430800-47432200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:47431000-47431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:47431000-47432000	Enhancers	Fetal Intestine Large	intestine
22	chr11:47431000-47432200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47431000-47432200	Enhancers	Fetal Heart	heart
24	chr11:47431000-47432200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:47431000-47432200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr11:47431000-47432400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:47431000-47432400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:47431000-47432400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:47431000-47432400	Enhancers	Esophagus	oesophagus
30	chr11:47431000-47432400	Enhancers	Fetal Brain Male	brain
31	chr11:47431000-47432600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:47431000-47432600	Enhancers	Stomach Mucosa	stomach
33	chr11:47431000-47432600	Transcr. at gene 5' and 3'	NHEK	skin
34	chr11:47431000-47433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:47431000-47434000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:47431000-47435000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:47431000-47435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:47431000-47435400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:47431000-47439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:47431000-47440000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:47431000-47442000	Weak transcription	Primary B cells from cord blood	blood
42	chr11:47431200-47431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:47431200-47431800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr11:47431200-47432000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:47431200-47432000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:47431200-47432000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:47431200-47432000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:47431200-47432000	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:47431200-47432000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:47431200-47432200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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