Variant report

Variant	rs17146441
Chromosome Location	chr11:64663227-64663228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64659817-64664484	K562	blood:	n/a	n/a
2	POLR2A	chr11:64663156-64663687	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:64660273-64663920	K562	blood:	n/a	n/a
4	POLR2A	chr11:64662750-64663712	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:64662994-64663486	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64661913..64664044-chr11:64677085..64679891,2	MCF-7	breast:
2	chr11:64660891..64664747-chr11:64780644..64783500,5	K562	blood:
3	chr11:64660959..64663353-chr11:64681629..64685010,3	MCF-7	breast:
4	chr11:64661726..64663535-chr11:64663956..64665572,2	MCF-7	breast:
5	chr11:64662200..64663793-chr11:64672087..64675705,3	MCF-7	breast:
6	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
7	chr11:64655612..64657117-chr11:64662574..64665430,2	MCF-7	breast:
8	chr11:64660429..64663235-chr11:64780866..64783681,3	MCF-7	breast:

No data

Variant related genes	Relation type
MIR194-2	TF binding region
ENSG00000267804	TF binding region
MIR192	TF binding region
ENSG00000068971	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2285346	0.84[CEU][hapmap];0.93[CHD][hapmap];0.81[TSI][hapmap]
rs240567	0.84[TSI][hapmap]
rs240571	0.84[TSI][hapmap]
rs240572	0.84[TSI][hapmap]
rs2670908	0.84[TSI][hapmap]
rs34944753	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36039272	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs519796	0.84[TSI][hapmap]
rs626670	0.84[TSI][hapmap]
rs658006	0.87[ASN][1000 genomes]
rs675090	0.84[TSI][hapmap]
rs7939874	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7944276	0.80[YRI][hapmap]
rs7949887	0.81[CHB][hapmap];1.00[YRI][hapmap];0.82[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	chr11:64655800-64664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
3	chr11:64656000-64663600	Weak transcription	Brain Anterior Caudate	brain
4	chr11:64656000-64663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:64656000-64664000	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:64656000-64664200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:64656000-64664400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:64656000-64664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:64656000-64665600	Weak transcription	HMEC	breast
10	chr11:64656000-64674200	Weak transcription	NH-A	brain
11	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
12	chr11:64656000-64683200	Weak transcription	HSMM	muscle
13	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
14	chr11:64656400-64663400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:64656600-64663600	Weak transcription	Osteobl	bone
16	chr11:64656600-64664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:64656600-64664800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:64656600-64665200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64656600-64668800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:64656800-64664200	Weak transcription	NHEK	skin
22	chr11:64656800-64674200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:64657000-64682600	Weak transcription	Fetal Heart	heart
24	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
25	chr11:64658000-64667600	Weak transcription	Hela-S3	cervix
26	chr11:64658200-64663800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
28	chr11:64660200-64664800	Weak transcription	Aorta	Aorta
29	chr11:64660800-64663600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:64660800-64663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:64661000-64670600	Weak transcription	Small Intestine	intestine
32	chr11:64661200-64665200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:64661400-64671600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64661400-64672800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:64661400-64682200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:64661800-64663600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:64661800-64663800	Weak transcription	Left Ventricle	heart
38	chr11:64661800-64664000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:64661800-64667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:64661800-64667600	Weak transcription	HSMMtube	muscle
41	chr11:64661800-64667800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:64661800-64672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:64661800-64677200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:64662000-64663400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:64662000-64663400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:64662000-64663400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:64662000-64663800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr11:64662000-64665000	Weak transcription	Primary B cells from cord blood	blood
49	chr11:64662000-64665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:64662000-64667800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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