Variant report

Variant	rs10043321
Chromosome Location	chr5:145215562-145215563
allele	C/T
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	RCOR1	chr5:145213854-145215572	K562	blood:	n/a	n/a
2	MXI1	chr5:145214196-145215706	IMR90	lung:	n/a	n/a
3	MAX	chr5:145214050-145215662	HepG2	liver:	n/a	chr5:145214993-145215002
4	MAX	chr5:145213976-145215624	HCT-116	colon:	n/a	chr5:145214993-145215002
5	MYBL2	chr5:145214413-145215565	HepG2	liver:	n/a	n/a
6	MBD4	chr5:145215078-145215562	HepG2	liver:	n/a	n/a
7	MAX	chr5:145213995-145215603	HCT-116	colon:	n/a	chr5:145214993-145215002
8	MAZ	chr5:145214658-145215705	Hela-S3	cervix:	n/a	chr5:145214993-145215002
9	MAX	chr5:145214164-145215689	HepG2	liver:	n/a	chr5:145214993-145215002
10	SP1	chr5:145214571-145215587	A549	lung:	n/a	chr5:145215170-145215179 chr5:145214995-145215005 chr5:145215170-145215179 chr5:145214989-145214999 chr5:145215169-145215181 chr5:145215171-145215180 chr5:145215170-145215180 chr5:145214989-145214999 chr5:145215169-145215181
11	NFYB	chr5:145215513-145215713	K562	blood:	n/a	n/a
12	POLR2A	chr5:145214656-145215888	K562	blood:	n/a	n/a
13	POLR2A	chr5:145215543-145215648	GM12878	blood:	n/a	n/a
14	MAZ	chr5:145214130-145215585	IMR90	lung:	n/a	chr5:145214993-145215002
15	E2F6	chr5:145214104-145215617	H1-hESC	embryonic stem cell:	n/a	chr5:145214559-145214566 chr5:145215127-145215137 chr5:145214559-145214566 chr5:145215017-145215027 chr5:145214559-145214566 chr5:145214558-145214570
16	HEY1	chr5:145214644-145215716	K562	blood:	n/a	n/a
17	ZNF263	chr5:145214199-145215563	HEK293-T-REx	kidney:	n/a	n/a
18	MAX	chr5:145214001-145215626	A549	lung:	n/a	chr5:145214993-145215002
19	HCFC1	chr5:145214025-145215601	Hela-S3	cervix:	n/a	n/a
20	MAX	chr5:145214001-145215660	A549	lung:	n/a	chr5:145214993-145215002
21	POLR2A	chr5:145214450-145215738	Hela-S3	cervix:	n/a	n/a
22	MAX	chr5:145214287-145215582	MCF-7	breast:	n/a	chr5:145214993-145215002
23	TBP	chr5:145214784-145215607	HepG2	liver:	n/a	n/a
24	MAFF	chr5:145215264-145215602	HepG2	liver:	n/a	n/a
25	POLR2A	chr5:145214415-145215799	K562	blood:	n/a	n/a
26	E2F6	chr5:145214263-145215709	K562	blood:	n/a	chr5:145214559-145214566 chr5:145215127-145215137 chr5:145214559-145214566 chr5:145215017-145215027 chr5:145214559-145214566 chr5:145214558-145214570
27	TBP	chr5:145214218-145215696	K562	blood:	n/a	n/a
28	E2F6	chr5:145214143-145215644	A549	lung:	n/a	chr5:145214559-145214566 chr5:145215127-145215137 chr5:145214559-145214566 chr5:145215017-145215027 chr5:145214559-145214566 chr5:145214558-145214570
29	GTF2F1	chr5:145214831-145215702	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr5:145213951-145215738	A549	lung:	n/a	chr5:145215110-145215120
31	POLR2A	chr5:145215552-145215628	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:145214274-145215734	PBDE	blood:	n/a	n/a
33	RCOR1	chr5:145214001-145216060	IMR90	lung:	n/a	n/a
34	CHD2	chr5:145214608-145215605	K562	blood:	n/a	chr5:145215169-145215179
35	POLR2A	chr5:145214351-145215906	K562	blood:	n/a	n/a
36	POLR2A	chr5:145214408-145215752	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:145214669-145215729	K562	blood:	n/a	n/a
38	MAX	chr5:145214352-145215578	H1-hESC	embryonic stem cell:	n/a	chr5:145214993-145215002
39	FOS	chr5:145214581-145215575	HUVEC	blood vessel:	n/a	chr5:145215413-145215422 chr5:145215306-145215313
40	MYBL2	chr5:145214664-145215567	HepG2	liver:	n/a	n/a
41	MAX	chr5:145214118-145215586	ECC-1	luminal epithelium:	n/a	chr5:145214993-145215002
42	POLR2A	chr5:145214508-145215648	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:145215546-145215596	HCF	heart:	n/a
2	chr5:145215546-145215596	HIPEpiC	eye:	n/a
3	chr5:145215546-145215596	NH-A	brain:	n/a
4	chr5:145215546-145215596	HNPCEpiC	eye:	n/a
5	chr5:145215546-145215596	HCT-116	colon:	n/a
6	chr5:145215546-145215596	LNCaP	prostate:	n/a
7	chr5:145215546-145215596	MCF-7	breast:	n/a
8	chr5:145215546-145215596	AG04449	skin:	fetal
9	chr5:145215546-145215596	Hepatocyte	liver:	n/a
10	chr5:145215546-145215596	NT2-D1	testis:	n/a
11	chr5:145215546-145215596	SK-N-MC	brain:	n/a
12	chr5:145215546-145215596	Jurkat	blood:	n/a
13	chr5:145215546-145215596	HCM	heart:	n/a
14	chr5:145215546-145215596	ECC-1	luminal epithelium:	n/a
15	chr5:145215546-145215596	GM06990	blood:	n/a
16	chr5:145215546-145215596	SKMC	muscle:	n/a
17	chr5:145215546-145215596	Caco-2	colon:	n/a
18	chr5:145215546-145215596	AG09309	skin:	n/a
19	chr5:145215546-145215596	NHBE	bronchial:	n/a
20	chr5:145215546-145215596	SAEC	small airway:	n/a
21	chr5:145215546-145215596	GM12892	blood:	n/a
22	chr5:145215546-145215596	T-47D	breast:	n/a
23	chr5:145215546-145215596	RPTEC	kidney:	n/a
24	chr5:145215546-145215596	U87	brain:	n/a
25	chr5:145215546-145215596	HL-60	blood:	n/a
26	chr5:145215546-145215596	PANC-1	pancreas:	n/a
27	chr5:145215546-145215596	IMR90	lung:	fetal
28	chr5:145215546-145215596	A549	lung:	n/a
29	chr5:145215546-145215596	SK-N-SH_RA	brain:	n/a
30	chr5:145215546-145215596	GM19239	blood:	n/a
31	chr5:145215546-145215596	CMK	blood:	n/a
32	chr5:145215546-145215596	HAEpiC	amniotic membrane:	n/a
33	chr5:145215546-145215596	HRCEpiC	kidney:	n/a
34	chr5:145215546-145215596	GM12891	blood:	n/a
35	chr5:145215546-145215596	AG10803	skin:	n/a
36	chr5:145215546-145215596	ovcar-3	ovarian:	n/a
37	chr5:145215546-145215596	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:145215546-145215596	AoSMC	blood vessel:	n/a
39	chr5:145215546-145215596	GM12878	blood:	n/a
40	chr5:145215546-145215596	HUVEC	blood vessel:	n/a
41	chr5:145215546-145215596	NB4	blood:	n/a
42	chr5:145215546-145215596	AG04450	lung:	fetal
43	chr5:145215546-145215596	HEK293	kidney:	embryo
44	chr5:145215546-145215596	K562	blood:	n/a
45	chr5:145215546-145215596	HCPEpiC	choroid plexus:	n/a
46	chr5:145215546-145215596	H1-hESC	embryonic stem cell:	embryo
47	chr5:145215546-145215596	MCF10A-Er-Src	breast:	n/a
48	chr5:145215546-145215596	SK-N-SH	brain:	n/a
49	chr5:145215546-145215596	HRE	kidney:	n/a
50	chr5:145215546-145215596	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145215103..145216674-chr5:145218968..145221764,2	MCF-7	breast:

Variant related genes	Relation type
PRELID2	TF binding region
PRELID2	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1001433	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10045188	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050400	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10055545	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10071145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10477291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565437	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28451090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673057	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59511054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60544283	0.96[EUR][1000 genomes]
rs60708187	0.96[EUR][1000 genomes]
rs6890408	0.87[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	esv3329004	chr5:145213984-145216532	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145212800-145216000	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:145213200-145215600	Active TSS	NHLF	lung
3	chr5:145214000-145215600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:145214000-145215600	Active TSS	Ovary	ovary
5	chr5:145214000-145215800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:145214200-145215600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:145214200-145215600	Active TSS	Brain Anterior Caudate	brain
8	chr5:145214200-145215600	Active TSS	Brain Hippocampus Middle	brain
9	chr5:145214200-145215600	Active TSS	Colon Smooth Muscle	Colon
10	chr5:145214200-145215600	Active TSS	Esophagus	oesophagus
11	chr5:145214200-145215800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:145214200-145215800	Active TSS	Aorta	Aorta
13	chr5:145214400-145215600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr5:145214400-145215600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:145214400-145215600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:145214400-145215600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr5:145214400-145215600	Active TSS	Psoas Muscle	Psoas
18	chr5:145214400-145215800	Active TSS	Primary T cells from cord blood	blood
19	chr5:145214400-145215800	Active TSS	Fetal Kidney	kidney
20	chr5:145214600-145215600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr5:145214600-145215800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:145214600-145216000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:145214800-145215600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:145215000-145215600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr5:145215000-145215600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr5:145215000-145215600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:145215000-145215800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr5:145215000-145216000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:145215200-145215600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:145215200-145215600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:145215200-145215600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr5:145215200-145215600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr5:145215200-145215600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr5:145215200-145215600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:145215200-145215600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:145215200-145215600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:145215200-145215600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr5:145215200-145215600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr5:145215200-145215600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:145215200-145215600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:145215200-145215600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr5:145215200-145215600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:145215200-145215600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:145215200-145215600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:145215200-145215600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr5:145215200-145215600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:145215200-145215600	Flanking Active TSS	Fetal Brain Female	brain
48	chr5:145215200-145215600	Flanking Active TSS	Fetal Stomach	stomach
49	chr5:145215200-145215600	Flanking Active TSS	Fetal Thymus	thymus
50	chr5:145215200-145215600	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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