Variant report

Variant	rs72751990
Chromosome Location	chr15:92484054-92484055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr15:92483992-92484643	Hela-S3	cervix:	n/a	n/a
2	EBF1	chr15:92483530-92484318	GM12878	blood:	n/a	chr15:92483666-92483676 chr15:92483665-92483678
3	GTF2F1	chr15:92483948-92484652	Hela-S3	cervix:	n/a	n/a
4	NR2F2	chr15:92483902-92484667	MCF-7	breast:	n/a	chr15:92484185-92484200
5	TFAP2C	chr15:92483933-92484844	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:92484044-92484094	AG09319	gingival:	n/a
2	chr15:92484044-92484094	IMR90	lung:	fetal
3	chr15:92484044-92484094	SKMC	muscle:	n/a
4	chr15:92484044-92484094	HPAEpiC	pulmonary alveolar:	n/a
5	chr15:92484044-92484094	AG10803	skin:	n/a
6	chr15:92484044-92484094	AoSMC	blood vessel:	n/a
7	chr15:92484044-92484094	AG09309	skin:	n/a
8	chr15:92484044-92484094	HIPEpiC	eye:	n/a
9	chr15:92484044-92484094	HCM	heart:	n/a
10	chr15:92484044-92484094	Hela-S3	cervix:	n/a
11	chr15:92484044-92484094	GM12878	blood:	n/a
12	chr15:92484044-92484094	HCT-116	colon:	n/a
13	chr15:92484044-92484094	U87	brain:	n/a
14	chr15:92484044-92484094	HEEpiC	esophagus:	n/a
15	chr15:92484044-92484094	PANC-1	pancreas:	n/a
16	chr15:92484044-92484094	Hepatocyte	liver:	n/a
17	chr15:92484044-92484094	SK-N-MC	brain:	n/a
18	chr15:92484044-92484094	GM12892	blood:	n/a
19	chr15:92484044-92484094	HMEC	breast:	n/a
20	chr15:92484044-92484094	Caco-2	colon:	n/a
21	chr15:92484044-92484094	T-47D	breast:	n/a
22	chr15:92484044-92484094	HNPCEpiC	eye:	n/a
23	chr15:92484044-92484094	HepG2	liver:	n/a
24	chr15:92484044-92484094	SK-N-SH	brain:	n/a
25	chr15:92484044-92484094	HRCEpiC	kidney:	n/a
26	chr15:92484044-92484094	GM12891	blood:	n/a
27	chr15:92484044-92484094	NHBE	bronchial:	n/a
28	chr15:92484044-92484094	A549	lung:	n/a
29	chr15:92484044-92484094	SAEC	small airway:	n/a
30	chr15:92484044-92484094	HUVEC	blood vessel:	n/a
31	chr15:92484044-92484094	CMK	blood:	n/a
32	chr15:92484044-92484094	HCF	heart:	n/a
33	chr15:92484044-92484094	K562	blood:	n/a
34	chr15:92484044-92484094	MCF10A-Er-Src	breast:	n/a
35	chr15:92484044-92484094	HRPEpiC	eye:	n/a
36	chr15:92484044-92484094	HRE	kidney:	n/a
37	chr15:92484044-92484094	ProgFib	skin:	n/a
38	chr15:92484044-92484094	SK-N-SH_RA	brain:	n/a
39	chr15:92484044-92484094	HAEpiC	amniotic membrane:	n/a
40	chr15:92484044-92484094	ovcar-3	ovarian:	n/a
41	chr15:92484044-92484094	NT2-D1	testis:	n/a
42	chr15:92484044-92484094	RPTEC	kidney:	n/a
43	chr15:92484044-92484094	H1-hESC	embryonic stem cell:	embryo
44	chr15:92484044-92484094	GM06990	blood:	n/a
45	chr15:92484044-92484094	NHDF-neo	bronchial:	n/a
46	chr15:92484044-92484094	AG04450	lung:	fetal
47	chr15:92484044-92484094	HL-60	blood:	n/a
48	chr15:92484044-92484094	GM19239	blood:	n/a
49	chr15:92484044-92484094	BJ	skin:	n/a
50	chr15:92484044-92484094	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
SLCO3A1	TF binding region
SLCO3A1	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11853482	0.80[EUR][1000 genomes]
rs16946175	0.81[EUR][1000 genomes]
rs17596562	0.81[EUR][1000 genomes]
rs17596569	0.81[EUR][1000 genomes]
rs55653850	0.81[EUR][1000 genomes]
rs55671921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55713569	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55761412	0.81[EUR][1000 genomes]
rs55767000	0.81[EUR][1000 genomes]
rs55771916	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55772252	0.83[EUR][1000 genomes]
rs55792858	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829293	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888073	0.81[EUR][1000 genomes]
rs55915922	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55934923	0.81[EUR][1000 genomes]
rs56000392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56016534	0.81[EUR][1000 genomes]
rs56085012	0.81[EUR][1000 genomes]
rs56100108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168257	0.81[EUR][1000 genomes]
rs56279925	0.81[EUR][1000 genomes]
rs57583649	0.84[EUR][1000 genomes]
rs6496879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165108	1.00[ASN][1000 genomes]
rs72750065	0.81[EUR][1000 genomes]
rs72750067	0.81[EUR][1000 genomes]
rs72750081	0.83[EUR][1000 genomes]
rs72751903	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72751967	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72751974	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751975	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751979	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751987	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754005	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754006	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754008	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754010	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754011	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754013	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754014	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754017	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754018	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72754019	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72754021	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754023	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72754086	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72754089	0.81[EUR][1000 genomes]
rs72754091	0.81[EUR][1000 genomes]
rs72754092	0.81[EUR][1000 genomes]
rs72755606	0.81[EUR][1000 genomes]
rs72755608	0.81[EUR][1000 genomes]
rs72755613	0.81[EUR][1000 genomes]
rs72755617	0.81[EUR][1000 genomes]
rs8027174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92469400-92485800	Weak transcription	Aorta	Aorta
2	chr15:92475400-92484600	Weak transcription	Primary T cells from cord blood	blood
3	chr15:92478800-92488000	Enhancers	Fetal Heart	heart
4	chr15:92479000-92491200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr15:92479200-92485000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:92479400-92485000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:92479800-92486000	Enhancers	Brain Hippocampus Middle	brain
8	chr15:92480200-92485000	Weak transcription	NHLF	lung
9	chr15:92480600-92485000	Weak transcription	Adipose Nuclei	Adipose
10	chr15:92480600-92485600	Weak transcription	Fetal Brain Female	brain
11	chr15:92480600-92485600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:92480600-92485600	Weak transcription	Psoas Muscle	Psoas
13	chr15:92480600-92486000	Weak transcription	HSMMtube	muscle
14	chr15:92480800-92485000	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:92480800-92485800	Weak transcription	Fetal Brain Male	brain
16	chr15:92481200-92484200	Enhancers	Brain Angular Gyrus	brain
17	chr15:92481800-92485000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:92481800-92486000	Enhancers	Right Atrium	heart
19	chr15:92481800-92492600	Enhancers	Right Ventricle	heart
20	chr15:92482000-92488200	Enhancers	Left Ventricle	heart
21	chr15:92482200-92485400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr15:92482200-92486400	Enhancers	Pancreas	Pancrea
23	chr15:92482200-92487200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:92482200-92492400	Enhancers	Brain Substantia Nigra	brain
25	chr15:92482400-92484600	Enhancers	Esophagus	oesophagus
26	chr15:92482400-92485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:92482600-92484400	Enhancers	Stomach Smooth Muscle	stomach
28	chr15:92482600-92485000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:92482600-92485000	Enhancers	HMEC	breast
30	chr15:92482600-92485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:92482600-92485800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:92482600-92486000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:92482600-92486400	Enhancers	Lung	lung
34	chr15:92482600-92488000	Enhancers	Ovary	ovary
35	chr15:92482600-92488000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:92482600-92491800	Enhancers	Placenta	Placenta
37	chr15:92482800-92484600	Enhancers	Colonic Mucosa	Colon
38	chr15:92482800-92484800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr15:92482800-92485200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:92482800-92485600	Enhancers	A549	lung
41	chr15:92482800-92486000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr15:92482800-92488200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:92483000-92484200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr15:92483000-92484200	Weak transcription	Small Intestine	intestine
45	chr15:92483000-92484800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:92483000-92484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:92483000-92485400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr15:92483000-92485600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:92483000-92486000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:92483000-92486000	Enhancers	Brain Cingulate Gyrus	brain

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