Variant report

Variant	rs73230308
Chromosome Location	chr12:120986986-120986987
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120932214..120934636-chr12:120985300..120987224,2	K562	blood:
2	chr12:120985691..120987813-chr12:121000937..121002472,2	K562	blood:
3	chr12:120986321..120988616-chr12:120990306..120992869,4	MCF-7	breast:
4	chr12:120984923..120987191-chr12:121000937..121003289,2	K562	blood:
5	chr12:120728975..120731075-chr12:120985391..120988304,2	K562	blood:
6	chr12:120981016..120984297-chr12:120984439..120988147,3	K562	blood:
7	chr12:120985501..120987778-chr12:121016107..121018292,2	K562	blood:
8	chr12:120982785..120987053-chr12:120988717..120992540,5	MCF-7	breast:
9	chr12:120984282..120987778-chr12:121013554..121017607,3	K562	blood:
10	chr12:120986628..120988367-chr12:120995185..120997515,2	K562	blood:
11	chr12:120971071..120973641-chr12:120986668..120988897,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLL1-2	chr12:120986508-120987117	l_746_chr12:120985636-120987727_prostate

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11548264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315013	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs14017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950287	1.00[ASN][1000 genomes]
rs17431357	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431446	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17487385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509145	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17584461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17584503	1.00[AFR][1000 genomes]
rs73221341	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221346	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221358	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221362	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221363	1.00[ASN][1000 genomes]
rs73221368	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73221372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221380	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73221381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223295	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73223296	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225205	1.00[AFR][1000 genomes]
rs73225208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225219	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225229	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225249	1.00[AFR][1000 genomes]
rs73230303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230313	1.00[AFR][1000 genomes]
rs73230314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230328	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230332	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230336	1.00[ASN][1000 genomes]
rs73230337	0.90[AMR][1000 genomes]
rs73230339	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230342	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
6	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
7	chr12:120977600-121016800	Strong transcription	Dnd41	blood
8	chr12:120977800-120988400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:120980000-120987200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:120981200-120988400	Strong transcription	NHEK	skin
11	chr12:120981800-120987600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:120982000-120987600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:120982200-120987600	Genic enhancers	HepG2	liver
14	chr12:120982200-120988400	Strong transcription	HSMM	muscle
15	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:120982400-120987200	Strong transcription	HMEC	breast
17	chr12:120982400-120987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:120983400-120987000	Strong transcription	Hela-S3	cervix
19	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:120983600-120987000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:120983600-120987400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr12:120983600-120988000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:120983600-120988400	Strong transcription	Primary T cells from cord blood	blood
25	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
27	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:120983800-120987000	Strong transcription	K562	blood
33	chr12:120983800-120987600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:120983800-120988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:120984000-120987000	Strong transcription	Colon Smooth Muscle	Colon
39	chr12:120984000-120987000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:120984000-120987200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:120984000-120987400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:120984000-120987400	Strong transcription	Adipose Nuclei	Adipose
43	chr12:120984000-120987400	Strong transcription	Esophagus	oesophagus
44	chr12:120984000-120987400	Strong transcription	Lung	lung
45	chr12:120984000-120987400	Genic enhancers	Psoas Muscle	Psoas
46	chr12:120984000-120987400	Strong transcription	NHLF	lung
47	chr12:120984000-120987600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:120984000-120987800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:120984000-120988000	Strong transcription	Primary B cells from cord blood	blood
50	chr12:120984000-120988000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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