Variant report

Variant	rs658006
Chromosome Location	chr11:64664774-64664775
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	chr11:64664771-64665396	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64664073..64665620-chr11:64682984..64684733,2	MCF-7	breast:
2	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
3	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
4	chr11:64663247..64665501-chr11:64780433..64782538,2	K562	blood:
5	chr11:64655612..64657117-chr11:64662574..64665430,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR194-2	TF binding region
ENSG00000068971	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17146441	0.87[ASN][1000 genomes]
rs2285346	0.86[ASN][1000 genomes]
rs34944753	0.90[ASN][1000 genomes]
rs36039272	0.91[ASN][1000 genomes]
rs618006	0.89[ASN][1000 genomes]
rs67557026	0.87[ASN][1000 genomes]
rs7939874	0.87[ASN][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
2	chr11:64656000-64665600	Weak transcription	HMEC	breast
3	chr11:64656000-64674200	Weak transcription	NH-A	brain
4	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
5	chr11:64656000-64683200	Weak transcription	HSMM	muscle
6	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
7	chr11:64656600-64664800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:64656600-64665200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:64656600-64668800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:64656800-64674200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:64657000-64682600	Weak transcription	Fetal Heart	heart
13	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
14	chr11:64658000-64667600	Weak transcription	Hela-S3	cervix
15	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
16	chr11:64660200-64664800	Weak transcription	Aorta	Aorta
17	chr11:64661000-64670600	Weak transcription	Small Intestine	intestine
18	chr11:64661200-64665200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:64661400-64671600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:64661400-64672800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:64661400-64682200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:64661800-64667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:64661800-64667600	Weak transcription	HSMMtube	muscle
24	chr11:64661800-64667800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:64661800-64672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:64661800-64677200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:64662000-64665000	Weak transcription	Primary B cells from cord blood	blood
28	chr11:64662000-64665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:64662000-64667800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:64662000-64671400	Strong transcription	Ovary	ovary
31	chr11:64662000-64671400	Strong transcription	Dnd41	blood
32	chr11:64662000-64671600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:64662000-64671600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:64662000-64671600	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:64662000-64671800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:64662000-64673400	Strong transcription	Gastric	stomach
37	chr11:64662000-64682200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:64662000-64682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:64662000-64682200	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:64662200-64664800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:64662200-64667000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:64662200-64667800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:64662200-64671200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:64662200-64671400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:64662200-64671400	Strong transcription	Fetal Brain Female	brain
46	chr11:64662200-64671400	Strong transcription	Lung	lung
47	chr11:64662200-64671400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:64662200-64671400	Strong transcription	NHLF	lung
49	chr11:64662200-64671600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:64662200-64671600	Strong transcription	Brain Germinal Matrix	brain

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