Variant report

Variant	rs12045253
Chromosome Location	chr1:150977785-150977786
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150975371..150978821-chr1:151041337..151043536,3	K562	blood:
2	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
3	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
4	chr1:150976305..150978008-chr1:151041189..151043013,2	MCF-7	breast:
5	chr1:150976422..150979249-chr1:151029519..151032163,2	MCF-7	breast:
6	chr1:150963797..150966620-chr1:150976784..150978920,2	K562	blood:
7	chr1:150976003..150979092-chr1:151029150..151032179,4	K562	blood:
8	chr1:150950114..150952556-chr1:150975284..150977893,2	K562	blood:
9	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
10	chr1:150977224..150980859-chr1:151016149..151020552,4	K562	blood:
11	chr1:150950114..150953759-chr1:150976393..150978885,3	K562	blood:
12	chr1:150977352..150978939-chr1:151168361..151170660,2	K562	blood:
13	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
14	chr1:150952182..150958148-chr1:150976816..150982947,12	MCF-7	breast:
15	chr1:150976577..150980080-chr1:150980788..150983027,4	MCF-7	breast:
16	chr1:150977392..150983338-chr1:151040807..151046211,16	MCF-7	breast:
17	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57746902	1.00[EUR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers 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	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150955400-150978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150961800-150978200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:150967600-150978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:150968400-150978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:150968400-150978000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:150968400-150978000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:150968600-150978000	Weak transcription	A549	lung
8	chr1:150970000-150978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150970400-150978000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:150970800-150978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:150972000-150978200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:150972000-150978400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:150972200-150978000	Enhancers	K562	blood
14	chr1:150972400-150978000	Weak transcription	Aorta	Aorta
15	chr1:150972800-150978000	Weak transcription	HUVEC	blood vessel
16	chr1:150973000-150978000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:150973000-150978000	Weak transcription	HSMM	muscle
18	chr1:150973000-150978000	Weak transcription	HSMMtube	muscle
19	chr1:150973600-150980800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:150973800-150979000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:150974000-150978200	Enhancers	Fetal Thymus	thymus
22	chr1:150974600-150978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:150974800-150979000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:150975000-150978400	Enhancers	Placenta	Placenta
25	chr1:150975200-150978000	Enhancers	Small Intestine	intestine
26	chr1:150975200-150978200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:150975200-150978400	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:150975400-150977800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:150975400-150982400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:150975600-150977800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:150975600-150978000	Enhancers	Fetal Heart	heart
32	chr1:150975600-150978000	Enhancers	GM12878-XiMat	blood
33	chr1:150975800-150978000	Enhancers	Dnd41	blood
34	chr1:150975800-150979600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:150976000-150978000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:150976000-150978000	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:150976200-150978000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:150976200-150978200	Weak transcription	Thymus	Thymus
39	chr1:150976400-150978000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:150976400-150978000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:150976400-150979600	Active TSS	Pancreas	Pancrea
42	chr1:150976600-150978000	Enhancers	Psoas Muscle	Psoas
43	chr1:150976600-150978000	Enhancers	NHEK	skin
44	chr1:150976600-150978200	Enhancers	Fetal Brain Male	brain
45	chr1:150976600-150978800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:150976800-150978000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:150976800-150978000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:150976800-150979600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:150977000-150977800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:150977000-150978000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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