Variant report

Variant	rs10128649
Chromosome Location	chr11:64087700-64087701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
2	chr11:64086807..64088334-chr11:64108317..64110240,2	K562	blood:
3	chr11:64086371..64087924-chr11:64102764..64104388,2	MCF-7	breast:
4	chr11:64052935..64055141-chr11:64085438..64088024,2	MCF-7	breast:
5	chr11:64020572..64023323-chr11:64085691..64088535,2	K562	blood:
6	chr11:64006376..64009542-chr11:64085352..64088265,3	K562	blood:
7	chr11:64087500..64089576-chr11:64172197..64174261,2	K562	blood:
8	chr11:64087466..64090452-chr11:64106941..64109054,2	MCF-7	breast:
9	chr11:64064984..64067480-chr11:64085885..64088331,2	K562	blood:
10	chr11:64033536..64040775-chr11:64080684..64088458,16	K562	blood:
11	chr11:64007566..64010545-chr11:64085469..64088420,4	MCF-7	breast:
12	chr11:64035844..64038435-chr11:64083306..64087822,4	MCF-7	breast:
13	chr11:64082853..64088243-chr11:64119014..64129028,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173486	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10128595	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10556	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10732887	0.82[ASN][1000 genomes]
rs1124660	0.83[ASN][1000 genomes]
rs1207462	0.84[ASN][1000 genomes]
rs1213140	0.95[ASN][1000 genomes]
rs12271952	0.91[ASN][1000 genomes]
rs12281471	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12287065	0.98[ASN][1000 genomes]
rs12574188	0.84[ASN][1000 genomes]
rs12575515	0.84[ASN][1000 genomes]
rs12575690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577422	0.82[ASN][1000 genomes]
rs12577425	0.80[ASN][1000 genomes]
rs1468558	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17159027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1783518	0.82[ASN][1000 genomes]
rs2079786	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2232410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232417	1.00[EUR][1000 genomes]
rs2282548	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286612	0.88[ASN][1000 genomes]
rs2289572	0.93[ASN][1000 genomes]
rs2302262	0.98[ASN][1000 genomes]
rs28682946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41294376	0.93[ASN][1000 genomes]
rs41294424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473379	0.84[ASN][1000 genomes]
rs474430	1.00[EUR][1000 genomes]
rs490720	0.84[ASN][1000 genomes]
rs4930167	0.82[ASN][1000 genomes]
rs493052	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs494998	0.84[ASN][1000 genomes]
rs518698	0.82[ASN][1000 genomes]
rs520277	0.82[ASN][1000 genomes]
rs539008	0.84[ASN][1000 genomes]
rs539250	0.82[ASN][1000 genomes]
rs554812	0.84[ASN][1000 genomes]
rs569741	0.84[ASN][1000 genomes]
rs575081	0.84[ASN][1000 genomes]
rs58010797	0.82[ASN][1000 genomes]
rs58488481	0.84[ASN][1000 genomes]
rs58721876	0.98[ASN][1000 genomes]
rs59283629	0.98[ASN][1000 genomes]
rs60421451	1.00[ASN][1000 genomes]
rs60579179	0.82[ASN][1000 genomes]
rs61431997	0.98[ASN][1000 genomes]
rs621816	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650008	1.00[EUR][1000 genomes]
rs687424	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7110262	0.98[ASN][1000 genomes]
rs7118199	0.80[ASN][1000 genomes]
rs7121001	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950922	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7951858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952435	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	esv3470741	chr11:64085235-64087828	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
23	esv3470752	chr11:64085235-64087828	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64086200-64090200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64086400-64087800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:64086600-64088200	Weak transcription	Aorta	Aorta
4	chr11:64086800-64096600	Weak transcription	Right Atrium	heart
5	chr11:64086800-64099000	Weak transcription	Small Intestine	intestine
6	chr11:64087000-64087800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:64087000-64087800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:64087000-64087800	Weak transcription	Thymus	Thymus
9	chr11:64087000-64088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:64087000-64088000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:64087000-64088000	Weak transcription	Primary T cells from cord blood	blood
12	chr11:64087000-64088000	Weak transcription	Gastric	stomach
13	chr11:64087000-64088000	Weak transcription	NHLF	lung
14	chr11:64087000-64088400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:64087000-64088800	Weak transcription	NH-A	brain
16	chr11:64087000-64089000	Transcr. at gene 5' and 3'	Hela-S3	cervix
17	chr11:64087000-64089200	Genic enhancers	Placenta Amnion	Placenta Amnion
18	chr11:64087000-64089800	Enhancers	Stomach Mucosa	stomach
19	chr11:64087000-64091000	Genic enhancers	Fetal Intestine Small	intestine
20	chr11:64087000-64091400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:64087000-64091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:64087000-64097200	Weak transcription	HSMMtube	muscle
23	chr11:64087000-64099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:64087000-64099000	Weak transcription	HSMM	muscle
25	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64087200-64087800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:64087200-64087800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:64087200-64087800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:64087200-64087800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:64087200-64087800	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:64087200-64087800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:64087200-64088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:64087200-64088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:64087200-64088000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:64087200-64088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:64087200-64088000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:64087200-64088000	Genic enhancers	Brain Anterior Caudate	brain
38	chr11:64087200-64088000	Enhancers	Fetal Intestine Large	intestine
39	chr11:64087200-64088000	Weak transcription	Lung	lung
40	chr11:64087200-64088000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:64087200-64088000	Weak transcription	Osteobl	bone
42	chr11:64087200-64088200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:64087200-64088200	Weak transcription	Brain Germinal Matrix	brain
44	chr11:64087200-64088200	Weak transcription	Brain Substantia Nigra	brain
45	chr11:64087200-64088200	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:64087200-64088600	Weak transcription	Right Ventricle	heart
47	chr11:64087200-64088600	Weak transcription	A549	lung
48	chr11:64087200-64089000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:64087200-64089000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64087200-64089800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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