Variant report

Variant	rs650008
Chromosome Location	chr11:64082437-64082438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64081766-64082585	A549	lung:	n/a	n/a
2	CTCF	chr11:64082323-64082565	K562	blood:	n/a	n/a
3	POLR2A	chr11:64081992-64082560	PFSK-1	brain:	n/a	n/a
4	CTCF	chr11:64082322-64082600	K562	blood:	n/a	n/a
5	CTCF	chr11:64082436-64082540	Gliobla	brain:	n/a	n/a
6	POLR2A	chr11:64080095-64085877	K562	blood:	n/a	n/a
7	CTCF	chr11:64082350-64082566	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:64082191-64086215	PANC-1	pancreas:	n/a	n/a
9	CTCF	chr11:64082433-64082514	K562	blood:	n/a	n/a
10	CTCF	chr11:64082340-64082490	GM06990	blood:	n/a	n/a
11	CTCF	chr11:64082360-64082510	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:64081391-64086324	GM12892	blood:	n/a	n/a
13	CTCF	chr11:64082417-64082536	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:64082320-64082470	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:64082023-64082455	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:64082380-64082530	HMEC	breast:	n/a	n/a
17	POLR2A	chr11:64081956-64082440	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:64081830-64086244	GM12878	blood:	n/a	n/a
19	CTCF	chr11:64082417-64082551	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:64082420-64082570	NB4	blood:	n/a	n/a
21	CTCF	chr11:64082373-64082555	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:64082006-64082594	GM12891	blood:	n/a	n/a
23	CTCF	chr11:64082320-64082470	WERI-Rb-1	eye:	n/a	n/a
24	POLR2A	chr11:64082393-64082561	ProgFib	skin:	n/a	n/a
25	CTCF	chr11:64082393-64082557	GM12891	blood:	n/a	n/a
26	CTCF	chr11:64082431-64082484	GM19238	blood:	n/a	n/a
27	CTCF	chr11:64082400-64082550	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64081738-64086158	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:64082376-64082807	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:64081122-64086449	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:64082388-64086278	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:64081029-64084143	K562	blood:	n/a	n/a
33	CTCF	chr11:64082420-64082570	HRE	kidney:	n/a	n/a
34	CTCF	chr11:64082268-64082573	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:64081602-64087579	K562	blood:	n/a	n/a
36	POLR2A	chr11:64082431-64082529	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:64082079-64084053	GM12878	blood:	n/a	n/a
38	CTCF	chr11:64082426-64082515	NHEK	skin:	n/a	n/a
39	CTCF	chr11:64082413-64082540	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:64082401-64082531	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:64082435-64082510	A549	lung:	n/a	n/a
42	POLR2A	chr11:64082269-64084030	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:64081143-64086133	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr11:64082023-64082840	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:64082317-64082575	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:64082426-64082553	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:64082354-64082550	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64054269..64055804-chr11:64082232..64084509,2	K562	blood:
2	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
3	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
4	chr11:64050229..64053074-chr11:64081177..64083173,2	MCF-7	breast:
5	chr11:64016231..64018197-chr11:64082301..64086476,4	MCF-7	breast:
6	chr11:64081246..64082787-chr11:64121396..64124105,2	K562	blood:
7	chr11:64080620..64083894-chr11:64124180..64128334,3	MCF-7	breast:
8	chr11:63991810..63993878-chr11:64081220..64083594,2	K562	blood:
9	chr11:64033536..64040775-chr11:64080684..64088458,16	K562	blood:
10	chr11:63952189..63953757-chr11:64081280..64082901,2	K562	blood:
11	chr11:64081914..64083604-chr13:20131985..20134984,2	MCF-7	breast:
12	chr11:64011010..64014787-chr11:64081606..64086263,4	MCF-7	breast:
13	chr11:64050061..64052819-chr11:64080707..64082589,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX5	TF binding region
ENSG00000257086	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10128595	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10128649	1.00[EUR][1000 genomes]
rs10556	1.00[EUR][1000 genomes]
rs1124660	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12281471	1.00[EUR][1000 genomes]
rs12283639	1.00[EUR][1000 genomes]
rs12575690	1.00[EUR][1000 genomes]
rs1320688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1468558	1.00[EUR][1000 genomes]
rs2079786	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232410	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2232417	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282548	1.00[EUR][1000 genomes]
rs28682946	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759056	1.00[EUR][1000 genomes]
rs41294424	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs474430	1.00[EUR][1000 genomes]
rs493052	0.83[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs605827	0.98[ASN][1000 genomes]
rs621816	1.00[EUR][1000 genomes]
rs687424	1.00[EUR][1000 genomes]
rs7121001	1.00[EUR][1000 genomes]
rs7950922	1.00[EUR][1000 genomes]
rs7951858	1.00[EUR][1000 genomes]
rs7952435	0.83[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
15	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
16	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
18	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
19	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
20	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
21	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
22	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	164 gene(s)	inside rSNPs	diseases
23	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
24	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64074000-64084400	Weak transcription	Aorta	Aorta
2	chr11:64074200-64084400	Weak transcription	Ovary	ovary
3	chr11:64074400-64084200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64074600-64083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:64074600-64083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:64074600-64083800	Weak transcription	HUVEC	blood vessel
7	chr11:64074600-64084000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:64074600-64084200	Weak transcription	Fetal Kidney	kidney
9	chr11:64074800-64083600	Weak transcription	Osteobl	bone
10	chr11:64074800-64084000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:64074800-64084600	Weak transcription	Small Intestine	intestine
12	chr11:64075000-64083600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:64075000-64084000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:64075000-64084200	Weak transcription	Fetal Brain Male	brain
15	chr11:64075200-64082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:64075200-64083600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:64075200-64083800	Weak transcription	Fetal Heart	heart
18	chr11:64075200-64084200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:64075200-64084200	Weak transcription	Psoas Muscle	Psoas
20	chr11:64075600-64084000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:64078400-64083200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:64078400-64083400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:64078400-64083600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:64078400-64084000	Strong transcription	Fetal Stomach	stomach
25	chr11:64078400-64084000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:64078800-64082600	Strong transcription	Fetal Intestine Small	intestine
27	chr11:64079800-64083800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:64079800-64084000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:64080000-64082600	Strong transcription	Dnd41	blood
30	chr11:64080000-64082800	Strong transcription	Fetal Intestine Large	intestine
31	chr11:64080000-64083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:64080000-64083000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:64080000-64083200	Strong transcription	Gastric	stomach
34	chr11:64080000-64083600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:64080000-64083800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:64080000-64083800	Genic enhancers	Right Ventricle	heart
37	chr11:64080000-64083800	Strong transcription	Thymus	Thymus
38	chr11:64080000-64084000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:64080000-64084200	Genic enhancers	Liver	Liver
40	chr11:64080000-64084800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:64080200-64083000	Strong transcription	Fetal Brain Female	brain
42	chr11:64080200-64083400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:64080200-64083600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:64080200-64083600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:64080200-64083800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:64080200-64084000	Strong transcription	Lung	lung
47	chr11:64080400-64083200	Strong transcription	K562	blood
48	chr11:64080400-64083400	Strong transcription	GM12878-XiMat	blood
49	chr11:64080400-64083600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:64080400-64083600	Strong transcription	HepG2	liver

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