Variant report

Variant	rs12270159
Chromosome Location	chr11:62412154-62412155
allele	A/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62412098..62414534-chr11:62492500..62497433,5	K562	blood:
2	chr11:62328044..62331009-chr11:62411420..62414056,2	MCF-7	breast:
3	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
4	chr11:62340405..62345110-chr11:62411071..62415747,8	MCF-7	breast:
5	chr11:62403450..62410109-chr11:62410421..62417583,11	K562	blood:
6	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
7	chr11:62411925..62413931-chr11:62459508..62462404,2	K562	blood:
8	chr11:62386755..62391495-chr11:62411630..62418076,15	MCF-7	breast:
9	chr11:62365700..62368469-chr11:62411139..62413899,3	MCF-7	breast:
10	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
11	chr11:62389615..62391711-chr11:62410894..62415221,6	MCF-7	breast:
12	chr11:62412109..62413647-chr11:62605255..62608243,2	K562	blood:
13	chr11:62412088..62413964-chr11:62490070..62492165,2	MCF-7	breast:
14	chr11:62377695..62382560-chr11:62411978..62415698,6	MCF-7	breast:
15	chr11:62379239..62383319-chr11:62411576..62416139,7	K562	blood:
16	chr11:62412098..62414534-chr11:62491927..62496781,5	K562	blood:
17	chr11:62356914..62360610-chr11:62411901..62414699,4	K562	blood:
18	chr11:62312411..62314726-chr11:62411972..62413805,2	K562	blood:
19	chr11:62394769..62397022-chr11:62411940..62414057,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149489	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000255508	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12292661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631714	1.00[EUR][1000 genomes]
rs7129040	1.00[EUR][1000 genomes]
rs948683	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic 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	245 gene(s)	inside rSNPs	diseases
5	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
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription 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	243 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62390000-62413200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62390600-62412600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:62390800-62412400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:62390800-62412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:62391200-62412400	Strong transcription	Fetal Stomach	stomach
6	chr11:62400400-62412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:62400600-62412600	Weak transcription	Fetal Heart	heart
8	chr11:62402200-62413000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:62402600-62412400	Weak transcription	Small Intestine	intestine
10	chr11:62402600-62412600	Weak transcription	Esophagus	oesophagus
11	chr11:62405400-62413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:62406000-62413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:62406800-62412400	Weak transcription	Fetal Brain Male	brain
14	chr11:62406800-62413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:62407000-62412400	Weak transcription	Right Atrium	heart
16	chr11:62407000-62412600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:62407200-62412200	Weak transcription	Primary B cells from cord blood	blood
18	chr11:62407200-62412400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:62407200-62412400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:62407200-62412400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:62407200-62412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:62407200-62412600	Weak transcription	HSMMtube	muscle
23	chr11:62407200-62413000	Weak transcription	Psoas Muscle	Psoas
24	chr11:62407200-62413200	Weak transcription	Aorta	Aorta
25	chr11:62407200-62413200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:62407400-62412400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:62407400-62412400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:62407400-62412400	Weak transcription	Fetal Kidney	kidney
29	chr11:62407400-62412400	Weak transcription	Fetal Lung	lung
30	chr11:62407400-62412400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:62407400-62412400	Weak transcription	HMEC	breast
32	chr11:62407400-62412400	Weak transcription	NHDF-Ad	bronchial
33	chr11:62407400-62412600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:62407400-62412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:62407400-62412600	Weak transcription	Gastric	stomach
36	chr11:62407600-62412400	Weak transcription	NHEK	skin
37	chr11:62408800-62412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:62409600-62412400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:62409800-62412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:62410000-62412200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:62410000-62412200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:62410000-62412200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:62410000-62412200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:62410000-62412400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:62410000-62412600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:62410000-62412600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:62410200-62412200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:62410200-62412200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:62410200-62412200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:62410200-62412200	Strong transcription	Adipose Nuclei	Adipose

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