Variant report

Variant	rs4081424
Chromosome Location	chr11:64784833-64784834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr11:64784708-64784945	GM12878	blood:	n/a	n/a
2	PAX5	chr11:64784576-64784960	GM12878	blood:	n/a	n/a
3	PAX5	chr11:64784661-64784921	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64784795-64785023	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
3	chr11:64781559..64786098-chr11:64888152..64890441,5	MCF-7	breast:
4	chr11:64645952..64648266-chr11:64784260..64786007,2	K562	blood:
5	chr11:64784413..64784969-chr11:64885125..64885701,2	MCF-7	breast:
6	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
7	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
8	chr11:64783090..64786003-chr11:64844320..64846596,3	MCF-7	breast:
9	chr11:64784437..64787294-chr11:64787817..64790913,3	MCF-7	breast:
10	chr11:64781815..64785733-chr11:64830700..64833952,3	MCF-7	breast:
11	chr11:64779047..64780768-chr11:64783130..64785775,3	MCF-7	breast:
12	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
13	chr11:64643973..64646390-chr11:64783747..64786510,2	MCF-7	breast:
14	chr11:64611421..64614176-chr11:64782989..64786019,3	MCF-7	breast:
15	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
16	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
17	chr11:64783646..64785745-chr11:64792249..64794682,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARL2	TF binding region
ENSG00000270775	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149792	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11231923	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824646	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146543	0.84[EUR][1000 genomes]
rs17146569	0.97[EUR][1000 genomes]
rs17146575	0.97[EUR][1000 genomes]
rs17673281	0.84[EUR][1000 genomes]
rs58717149	0.90[EUR][1000 genomes]
rs7103328	0.94[EUR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64782400-64785800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:64782400-64786000	Weak transcription	Ovary	ovary
3	chr11:64782400-64794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64782600-64785000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64782600-64785400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:64782600-64785400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:64782600-64785400	Weak transcription	HSMM	muscle
8	chr11:64782600-64785400	Weak transcription	Osteobl	bone
9	chr11:64782600-64785600	Weak transcription	Gastric	stomach
10	chr11:64782600-64785800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:64782600-64785800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:64782600-64785800	Weak transcription	Left Ventricle	heart
13	chr11:64782600-64786000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:64782600-64787200	Weak transcription	Fetal Kidney	kidney
15	chr11:64782600-64794200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:64782600-64794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:64782600-64794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:64782600-64794400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:64782600-64794400	Weak transcription	Small Intestine	intestine
20	chr11:64782600-64794400	Weak transcription	HSMMtube	muscle
21	chr11:64782600-64794400	Weak transcription	HUVEC	blood vessel
22	chr11:64782600-64794400	Weak transcription	NH-A	brain
23	chr11:64782600-64794400	Weak transcription	NHDF-Ad	bronchial
24	chr11:64782600-64794600	Weak transcription	Right Atrium	heart
25	chr11:64782800-64785000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:64782800-64785200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:64782800-64785200	Weak transcription	NHLF	lung
28	chr11:64782800-64785400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:64782800-64785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:64782800-64785600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:64782800-64785600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:64782800-64785800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:64782800-64785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:64782800-64785800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:64782800-64785800	Weak transcription	Pancreas	Pancrea
36	chr11:64782800-64786200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:64782800-64788400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:64783000-64785000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:64783000-64785000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:64783000-64785200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:64783000-64785200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:64783000-64785200	Weak transcription	Fetal Intestine Large	intestine
43	chr11:64783000-64785400	Weak transcription	Brain Substantia Nigra	brain
44	chr11:64783000-64785600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:64783000-64785600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:64783000-64785800	Weak transcription	Liver	Liver
47	chr11:64783000-64785800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:64783000-64785800	Weak transcription	Right Ventricle	heart
49	chr11:64783000-64785800	Weak transcription	HMEC	breast
50	chr11:64783000-64786000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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