Variant report

Variant	rs73230314
Chromosome Location	chr12:120995953-120995954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120995820-120996002	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120981347..120985529-chr12:120995456..120997460,3	K562	blood:
2	chr12:120993976..120997018-chr12:120997627..120999554,4	MCF-7	breast:
3	chr12:120994023..120996050-chr12:121018061..121019874,2	K562	blood:

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000167272	Chromatin interaction
ENSG00000022840	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]
rs73230308	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]
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:126 , 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	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
4	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
5	chr12:120977600-121016800	Strong transcription	Dnd41	blood
6	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
17	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
18	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:120984200-120996000	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr12:120984200-121017400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:120984400-120996800	Strong transcription	Fetal Brain Female	brain
22	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
23	chr12:120985600-121000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:120988200-121017800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:120988200-121018200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:120988400-120996000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:120988400-120999000	Strong transcription	Fetal Intestine Small	intestine
29	chr12:120988400-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:120989000-120996200	Strong transcription	A549	lung
31	chr12:120989200-121017600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:120989400-121017800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:120989600-120996200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:120989600-121002200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:120989600-121008600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:120989600-121008600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:120989600-121015400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:120989600-121017600	Strong transcription	Placenta	Placenta
39	chr12:120990000-120996000	Strong transcription	Osteobl	bone
40	chr12:120990000-121018000	Strong transcription	Spleen	Spleen
41	chr12:120990200-121017800	Strong transcription	HUVEC	blood vessel
42	chr12:120990400-120996400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120990600-120996000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:120990600-120996000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:120990600-121017600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:120990800-121017200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:120990800-121017200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:120990800-121017400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:120990800-121017400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:120990800-121017400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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