Variant report

Variant	rs61943388
Chromosome Location	chr12:118812395-118812396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:118812323-118814598	K562	blood:	n/a	chr12:118813524-118813534 chr12:118813526-118813535

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:
2	chr12:118751783..118754702-chr12:118810776..118812505,2	K562	blood:
3	chr12:118670146..118671959-chr12:118810899..118813142,2	MCF-7	breast:
4	chr12:118577698..118580180-chr12:118811113..118813216,2	MCF-7	breast:
5	chr12:118674302..118676883-chr12:118810896..118813058,3	MCF-7	breast:
6	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
7	chr12:118558717..118560861-chr12:118811542..118813614,2	K562	blood:
8	chr12:118601731..118605413-chr12:118811549..118815749,6	MCF-7	breast:
9	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
10	chr12:118604051..118606436-chr12:118810994..118813151,2	MCF-7	breast:
11	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
12	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:
13	chr12:118612128..118614340-chr12:118811467..118813100,2	MCF-7	breast:
14	chr12:118638724..118640594-chr12:118810784..118812979,2	K562	blood:

No data

Variant related genes	Relation type
TAOK3	TF binding region
SUDS3	TF binding region
ENSG00000089220	Chromatin interaction
ENSG00000221280	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10082823	0.85[EUR][1000 genomes]
rs1060964	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	0.86[EUR][1000 genomes]
rs11068917	0.83[EUR][1000 genomes]
rs11068919	0.88[EUR][1000 genomes]
rs11068926	0.92[EUR][1000 genomes]
rs17440669	0.82[EUR][1000 genomes]
rs17440774	0.81[EUR][1000 genomes]
rs17440823	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17440893	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512525	0.82[EUR][1000 genomes]
rs17512574	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17512609	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17512652	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.84[EUR][1000 genomes]
rs1909617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036314	0.91[EUR][1000 genomes]
rs2036489	0.86[EUR][1000 genomes]
rs2055534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	0.86[EUR][1000 genomes]
rs2393403	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893771	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4406856	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4442583	0.92[EUR][1000 genomes]
rs4457791	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	0.86[EUR][1000 genomes]
rs4766900	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[ASN][1000 genomes]
rs55659011	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133316	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	1.00[ASN][1000 genomes]
rs56275187	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56324376	0.86[EUR][1000 genomes]
rs56347775	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59594854	0.86[EUR][1000 genomes]
rs61943364	0.81[EUR][1000 genomes]
rs61943367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943369	0.91[EUR][1000 genomes]
rs61943370	0.92[EUR][1000 genomes]
rs61943371	0.92[EUR][1000 genomes]
rs61943385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943404	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946068	0.82[EUR][1000 genomes]
rs6490177	0.83[EUR][1000 genomes]
rs7132753	0.88[EUR][1000 genomes]
rs7136676	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295288	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304342	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305647	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.82[EUR][1000 genomes]
rs7309484	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	0.82[EUR][1000 genomes]
rs7312555	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7315458	0.84[EUR][1000 genomes]
rs73205576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7958652	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7967900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882927	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884844	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs950288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61943388	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118811200-118812400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:118811200-118812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:118811200-118812600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:118811200-118813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:118811200-118813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118811200-118813800	Weak transcription	Gastric	stomach
7	chr12:118811200-118813800	Weak transcription	Pancreas	Pancrea
8	chr12:118811400-118812400	Flanking Active TSS	K562	blood
9	chr12:118811400-118812600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:118811400-118812800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:118811400-118813600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:118811400-118813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:118811400-118813800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:118811400-118813800	Weak transcription	Aorta	Aorta
15	chr12:118811400-118813800	Weak transcription	Esophagus	oesophagus
16	chr12:118811400-118813800	Weak transcription	Lung	lung
17	chr12:118811600-118812400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:118811600-118812400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:118811600-118812400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:118811600-118812400	Enhancers	HSMM	muscle
21	chr12:118811600-118813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:118811600-118813200	Enhancers	Brain Angular Gyrus	brain
23	chr12:118811600-118813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:118811600-118813600	Weak transcription	Placenta	Placenta
25	chr12:118811600-118813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:118811600-118813800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:118811600-118813800	Weak transcription	Ovary	ovary
28	chr12:118811800-118812400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:118811800-118812400	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:118811800-118812400	Enhancers	Left Ventricle	heart
31	chr12:118811800-118812400	Enhancers	Psoas Muscle	Psoas
32	chr12:118811800-118812400	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:118811800-118812400	Enhancers	Thymus	Thymus
34	chr12:118811800-118812400	Flanking Active TSS	HepG2	liver
35	chr12:118811800-118812400	Enhancers	HMEC	breast
36	chr12:118811800-118812600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:118811800-118812600	Enhancers	Fetal Muscle Leg	muscle
38	chr12:118811800-118812600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:118811800-118812800	Enhancers	Adipose Nuclei	Adipose
40	chr12:118811800-118812800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:118811800-118812800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:118811800-118812800	Weak transcription	Brain Substantia Nigra	brain
43	chr12:118811800-118812800	Enhancers	Osteobl	bone
44	chr12:118811800-118813000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:118811800-118813000	Enhancers	NHEK	skin
46	chr12:118811800-118813200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:118811800-118813200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:118811800-118813200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:118811800-118813200	Enhancers	NHLF	lung
50	chr12:118811800-118813400	Weak transcription	H9 Cell Line	embryonic stem cell

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