Variant report

Variant	rs12289608
Chromosome Location	chr11:62531064-62531065
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62520365..62524255-chr11:62526885..62533181,10	K562	blood:
2	chr11:62527533..62531903-chr11:62596696..62600047,4	MCF-7	breast:
3	chr11:62492526..62495335-chr11:62527541..62534068,6	K562	blood:
4	chr11:62527628..62534466-chr11:62606496..62609519,8	K562	blood:
5	chr11:62492351..62496994-chr11:62525479..62531629,8	MCF-7	breast:
6	chr11:62529000..62532669-chr11:62570947..62574628,4	K562	blood:
7	chr11:62500829..62504718-chr11:62528992..62531512,3	MCF-7	breast:
8	chr11:62526764..62531621-chr11:62534753..62540285,8	K562	blood:
9	chr11:62527434..62531276-chr11:62551815..62555730,6	K562	blood:
10	chr11:62527434..62531583-chr11:62553078..62556221,7	K562	blood:
11	chr11:62489834..62499984-chr11:62527523..62534733,19	MCF-7	breast:
12	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
13	chr11:62529679..62531629-chr11:62598537..62601462,2	K562	blood:
14	chr11:62432020..62434160-chr11:62529024..62531440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214753	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000256690	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11231135	1.00[AFR][1000 genomes]
rs11231158	1.00[AFR][1000 genomes]
rs7112976	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong 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	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' 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	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 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	chr11:62529600-62537600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62529800-62532600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:62529800-62532800	Weak transcription	Ovary	ovary
4	chr11:62530000-62532200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:62530000-62532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:62530200-62531800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:62530200-62532000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:62530200-62532000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:62530200-62532000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:62530200-62532000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:62530200-62532200	Weak transcription	Aorta	Aorta
12	chr11:62530200-62532600	Weak transcription	Fetal Kidney	kidney
13	chr11:62530200-62532600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:62530200-62532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:62530200-62532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:62530200-62532800	Weak transcription	Fetal Heart	heart
17	chr11:62530200-62532800	Weak transcription	Small Intestine	intestine
18	chr11:62530200-62533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:62530400-62531200	Genic enhancers	Dnd41	blood
20	chr11:62530400-62531400	Genic enhancers	Brain Angular Gyrus	brain
21	chr11:62530400-62531400	Enhancers	Fetal Brain Male	brain
22	chr11:62530400-62531800	Weak transcription	Osteobl	bone
23	chr11:62530400-62532000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:62530400-62532000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:62530400-62532000	Weak transcription	Left Ventricle	heart
26	chr11:62530400-62532600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:62530400-62532600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:62530400-62532600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:62530400-62532600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:62530400-62532600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:62530400-62532600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:62530400-62532600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:62530400-62532600	Weak transcription	Adipose Nuclei	Adipose
34	chr11:62530400-62532600	Weak transcription	Brain Anterior Caudate	brain
35	chr11:62530400-62532600	Weak transcription	Brain Substantia Nigra	brain
36	chr11:62530400-62532600	Weak transcription	Colonic Mucosa	Colon
37	chr11:62530400-62532600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:62530400-62532600	Weak transcription	HSMM	muscle
39	chr11:62530400-62532600	Weak transcription	HSMMtube	muscle
40	chr11:62530400-62532800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:62530400-62532800	Weak transcription	Esophagus	oesophagus
42	chr11:62530400-62532800	Weak transcription	HepG2	liver
43	chr11:62530400-62532800	Weak transcription	HUVEC	blood vessel
44	chr11:62530400-62532800	Weak transcription	NH-A	brain
45	chr11:62530400-62533400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:62530400-62533400	Weak transcription	Right Ventricle	heart
47	chr11:62530400-62533600	Weak transcription	Psoas Muscle	Psoas
48	chr11:62530400-62535400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:62530400-62536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:62530400-62536200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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