Variant report

Variant	rs481446
Chromosome Location	chr11:64804238-64804239
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64801971..64804817-chr11:64811001..64813793,2	K562	blood:
2	chr11:64788946..64793194-chr11:64803720..64806785,4	K562	blood:
3	chr11:64804233..64806103-chr11:64887626..64890022,2	K562	blood:
4	chr11:64799194..64801472-chr11:64804094..64806308,2	MCF-7	breast:
5	chr11:64800138..64802225-chr11:64803720..64806117,3	K562	blood:
6	chr11:64803567..64805727-chr11:64810246..64813138,2	K562	blood:
7	chr11:64793822..64797122-chr11:64800451..64804547,4	MCF-7	breast:
8	chr11:64794559..64796593-chr11:64801577..64804441,3	K562	blood:
9	chr11:64793852..64797329-chr11:64802249..64805422,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110025	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000270775	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10160811	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10792455	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17146589	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2458589	0.81[ASN][1000 genomes]
rs2670910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589041	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473587	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484147	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494837	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495820	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497023	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs500464	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs533164	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs533301	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs542175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561524	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs584698	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs608772	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613352	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633671	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs664118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689361	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' 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	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 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	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64795800-64805000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:64796000-64805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:64796000-64805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:64796000-64807400	Weak transcription	Stomach Mucosa	stomach
12	chr11:64796000-64807600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
15	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:64796200-64804400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:64796200-64805000	Weak transcription	NHDF-Ad	bronchial
18	chr11:64796200-64805600	Weak transcription	NH-A	brain
19	chr11:64796200-64807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:64796200-64807200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:64796200-64807200	Weak transcription	K562	blood
22	chr11:64796200-64807800	Weak transcription	Small Intestine	intestine
23	chr11:64796200-64807800	Weak transcription	A549	lung
24	chr11:64796200-64807800	Weak transcription	HMEC	breast
25	chr11:64796200-64807800	Weak transcription	HUVEC	blood vessel
26	chr11:64796200-64807800	Weak transcription	NHEK	skin
27	chr11:64796200-64808000	Weak transcription	Osteobl	bone
28	chr11:64796400-64805400	Weak transcription	HSMM	muscle
29	chr11:64796400-64805800	Weak transcription	GM12878-XiMat	blood
30	chr11:64796400-64807400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:64796400-64807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:64796400-64807600	Weak transcription	Fetal Brain Male	brain
33	chr11:64796400-64807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:64796600-64807600	Strong transcription	Fetal Intestine Small	intestine
35	chr11:64796800-64806000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:64796800-64807400	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:64796800-64808000	Strong transcription	Fetal Stomach	stomach
38	chr11:64797000-64805000	Weak transcription	Psoas Muscle	Psoas
39	chr11:64798200-64806400	Strong transcription	Placenta	Placenta
40	chr11:64798400-64806200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:64798400-64807400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:64798400-64807800	Strong transcription	Fetal Intestine Large	intestine
43	chr11:64798400-64807800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:64798600-64807200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:64798600-64807600	Strong transcription	Brain Germinal Matrix	brain
46	chr11:64798600-64807600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:64798600-64807800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:64798800-64804400	Strong transcription	Brain Hippocampus Middle	brain
49	chr11:64798800-64805200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:64798800-64806200	Strong transcription	Primary monocytes fromperipheralblood	blood

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