Variant report

Variant	rs12743066
Chromosome Location	chr1:184529686-184529687
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184354217..184357197-chr1:184528030..184531247,3	MCF-7	breast:
2	chr1:184418404..184421283-chr1:184528359..184530284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10911582	1.00[ASN][1000 genomes]
rs12082456	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726204	1.00[ASN][1000 genomes]
rs12727991	1.00[ASN][1000 genomes]
rs12735278	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737779	0.84[EUR][1000 genomes]
rs12743488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746499	1.00[ASN][1000 genomes]
rs12754494	1.00[ASN][1000 genomes]
rs12754557	1.00[ASN][1000 genomes]
rs12756319	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374607	0.86[EUR][1000 genomes]
rs13374609	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547608	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856561	1.00[ASN][1000 genomes]
rs1970391	1.00[ASN][1000 genomes]
rs2180075	1.00[ASN][1000 genomes]
rs34072105	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34312759	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418556	1.00[ASN][1000 genomes]
rs34427261	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34579903	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591137	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712320	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946851	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34959231	1.00[ASN][1000 genomes]
rs35021091	1.00[ASN][1000 genomes]
rs35040136	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35350002	1.00[ASN][1000 genomes]
rs35414247	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35430213	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901887	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886022	1.00[ASN][1000 genomes]
rs4275415	1.00[ASN][1000 genomes]
rs4332324	1.00[ASN][1000 genomes]
rs4354508	1.00[ASN][1000 genomes]
rs4390140	1.00[ASN][1000 genomes]
rs4466608	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650665	1.00[ASN][1000 genomes]
rs4650668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650669	1.00[ASN][1000 genomes]
rs4651204	1.00[ASN][1000 genomes]
rs4651207	0.86[EUR][1000 genomes]
rs4651212	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651222	1.00[ASN][1000 genomes]
rs57978136	1.00[ASN][1000 genomes]
rs59079733	1.00[ASN][1000 genomes]
rs66916459	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67811250	1.00[ASN][1000 genomes]
rs68054616	1.00[ASN][1000 genomes]
rs71634105	1.00[ASN][1000 genomes]
rs71634106	1.00[ASN][1000 genomes]
rs71634108	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71634109	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74131654	1.00[ASN][1000 genomes]
rs74131659	1.00[ASN][1000 genomes]
rs7531736	1.00[ASN][1000 genomes]
rs9425342	1.00[ASN][1000 genomes]
rs9970629	0.89[EUR][1000 genomes];1.00[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184505800-184530800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
3	chr1:184511400-184530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:184512200-184530200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:184512400-184530200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:184515200-184531200	Weak transcription	NHLF	lung
9	chr1:184520800-184542000	Weak transcription	Ovary	ovary
10	chr1:184521000-184530200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:184521000-184535800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:184523000-184530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:184524600-184531200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:184525200-184535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:184525400-184535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:184525600-184536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:184525600-184544000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:184525800-184530200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:184525800-184530800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:184525800-184531200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:184525800-184535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:184526200-184531200	Weak transcription	Fetal Heart	heart
26	chr1:184526400-184531400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:184526400-184531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:184526600-184529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:184526600-184535600	Weak transcription	Left Ventricle	heart
30	chr1:184527200-184530200	Weak transcription	Right Ventricle	heart
31	chr1:184527800-184530600	Weak transcription	Stomach Mucosa	stomach
32	chr1:184528000-184530200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:184528200-184530200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:184528400-184530200	Weak transcription	Esophagus	oesophagus
35	chr1:184528400-184530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:184528400-184530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:184528400-184531400	Weak transcription	NHEK	skin
38	chr1:184528600-184530400	Weak transcription	Right Atrium	heart
39	chr1:184528600-184531200	Weak transcription	HMEC	breast
40	chr1:184528600-184535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:184528600-184536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:184529200-184530200	Weak transcription	Psoas Muscle	Psoas
43	chr1:184529200-184531000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:184529200-184535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:184529600-184530800	Weak transcription	Colon Smooth Muscle	Colon

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