Variant report

Variant	rs2904963
Chromosome Location	chr11:64682950-64682951
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:15)
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	MAX	chr11:64682644-64682996	K562	blood:	n/a	chr11:64682815-64682825
2	POLR2A	chr11:64682720-64685449	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr11:64682583-64686155	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:64682940-64682950	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
2	chr11:64682222..64684241-chr11:64876478..64880891,3	K562	blood:
3	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
4	chr11:64682623..64685328-chr11:64870943..64873387,2	MCF-7	breast:
5	chr11:64681545..64685255-chr11:64700864..64703818,3	K562	blood:
6	chr11:64653740..64655395-chr11:64682265..64684591,2	MCF-7	breast:
7	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
8	chr11:64681374..64684228-chr11:64726680..64729016,2	K562	blood:
9	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
10	chr11:64680208..64683169-chr11:64690299..64692795,2	MCF-7	breast:
11	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
12	chr11:64682450..64685608-chr11:64808232..64811277,3	MCF-7	breast:
13	chr11:64681374..64684228-chr11:64725451..64729016,3	K562	blood:
14	chr11:64681631..64684611-chr11:64749836..64752402,2	K562	blood:
15	chr11:64682424..64684524-chr11:64927254..64929359,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP2R5B	TF binding region
ATG2A	TF binding region
ENSG00000267804	Chromatin interaction
ENSG00000255058	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000229719	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12293826	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601047	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs601805	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs606412	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs606974	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61740228	1.00[AMR][1000 genomes]
rs619328	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs628595	0.91[ASW][hapmap]
rs630585	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs632555	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs677805	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs684250	0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7113740	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	1028 gene(s)	inside rSNPs	diseases
9	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
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
11	nsv555209	chr11:64661532-64684288	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64656000-64683200	Weak transcription	HSMM	muscle
2	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
3	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
5	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
6	chr11:64668400-64683200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:64676800-64683000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:64679200-64683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:64679200-64683400	Weak transcription	HUVEC	blood vessel
10	chr11:64679200-64683400	Weak transcription	NHDF-Ad	bronchial
11	chr11:64679400-64683400	Weak transcription	Psoas Muscle	Psoas
12	chr11:64679400-64683600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:64679600-64683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:64679800-64683200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:64680000-64683000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:64680000-64683200	Weak transcription	HMEC	breast
17	chr11:64680200-64683400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:64680600-64683400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:64680800-64683200	Weak transcription	Osteobl	bone
20	chr11:64681000-64683400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:64681200-64683200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:64681400-64683400	Weak transcription	A549	lung
23	chr11:64681600-64683000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:64681600-64683200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:64681600-64683200	Weak transcription	Left Ventricle	heart
26	chr11:64681600-64683200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:64681600-64683400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:64681600-64683400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:64681600-64683400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:64681600-64683400	Weak transcription	HSMMtube	muscle
31	chr11:64681600-64683600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:64681800-64683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:64681800-64683000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:64681800-64683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:64681800-64683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:64681800-64683200	Weak transcription	Fetal Brain Female	brain
37	chr11:64681800-64683400	Weak transcription	Aorta	Aorta
38	chr11:64682000-64683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:64682000-64683000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:64682000-64683000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:64682000-64683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:64682000-64683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:64682000-64683000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:64682000-64683000	Weak transcription	HepG2	liver
45	chr11:64682000-64683200	Weak transcription	Esophagus	oesophagus
46	chr11:64682000-64683400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:64682000-64683400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:64682200-64683000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:64682200-64683000	Weak transcription	Colonic Mucosa	Colon
50	chr11:64682200-64683000	Weak transcription	Gastric	stomach

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