Variant report

Variant	rs488686
Chromosome Location	chr11:64814425-64814426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64812307-64815018	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64807810..64812277-chr11:64813364..64817609,8	MCF-7	breast:
2	chr11:64812575..64814615-chr11:64814820..64816804,2	MCF-7	breast:
3	chr11:64814122..64816678-chr11:65265607..65267659,2	MCF-7	breast:
4	chr11:64813509..64815551-chr11:64854732..64857551,2	K562	blood:
5	chr11:64813127..64817234-chr11:64832954..64835448,4	MCF-7	breast:

No data

Variant related genes	Relation type
NAALADL1	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000187066	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10897544	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231929	0.85[JPT][hapmap]
rs1129195	0.83[CHB][hapmap]
rs1300845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282499	0.83[CHB][hapmap]
rs2458298	0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2507814	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741390	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759041	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3782094	0.89[CHB][hapmap]
rs3850947	0.83[CEU][hapmap]
rs476824	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs486984	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs502333	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs525433	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs533018	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs562590	0.96[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs613874	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs620981	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs678614	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs947799	0.80[CEU][hapmap];0.89[CHB][hapmap]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64809600-64814800	Weak transcription	Stomach Mucosa	stomach
2	chr11:64809800-64814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:64809800-64814600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:64809800-64814600	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr11:64809800-64814800	Weak transcription	NH-A	brain
6	chr11:64810000-64814800	Weak transcription	Small Intestine	intestine
7	chr11:64810200-64814600	Weak transcription	Fetal Heart	heart
8	chr11:64810200-64814800	Weak transcription	HUVEC	blood vessel
9	chr11:64810400-64814600	Weak transcription	HSMMtube	muscle
10	chr11:64810600-64814800	Strong transcription	Fetal Intestine Small	intestine
11	chr11:64810800-64814800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:64811600-64814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:64811800-64814600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:64811800-64814800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:64812000-64814600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:64812000-64814800	Weak transcription	Right Atrium	heart
17	chr11:64812400-64814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:64812600-64814600	Weak transcription	Osteobl	bone
19	chr11:64812600-64814800	Weak transcription	Aorta	Aorta
20	chr11:64812600-64815600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:64812600-64815800	Weak transcription	A549	lung
22	chr11:64812600-64820200	Weak transcription	HMEC	breast
23	chr11:64812800-64814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:64812800-64814600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:64812800-64814600	Weak transcription	NHEK	skin
26	chr11:64812800-64814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:64812800-64814800	Weak transcription	Left Ventricle	heart
28	chr11:64813000-64814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:64813000-64815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:64813000-64815600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:64813000-64815800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:64813200-64814800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:64813200-64814800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:64813200-64814800	Weak transcription	Placenta	Placenta
35	chr11:64813200-64815000	Weak transcription	HSMM	muscle
36	chr11:64813200-64816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:64813400-64814600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:64813400-64814600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:64813400-64814600	Weak transcription	Adipose Nuclei	Adipose
40	chr11:64813400-64814600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:64813400-64814800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:64813400-64814800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:64813400-64814800	Weak transcription	Brain Anterior Caudate	brain
44	chr11:64813400-64815000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:64813400-64818400	Weak transcription	K562	blood
46	chr11:64813400-64821200	Weak transcription	Primary T cells from cord blood	blood
47	chr11:64813400-64824200	Weak transcription	HepG2	liver
48	chr11:64813600-64814600	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:64813600-64814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:64813600-64814600	Enhancers	Monocytes-CD14+_RO01746	blood

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