Variant report

Variant	rs183413269
Chromosome Location	chr5:145215130-145215131
allele	C/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	CTCF	chr5:145214980-145215130	AG04449	skin:	n/a	chr5:145215112-145215130
2	TCF7L2	chr5:145214283-145215370	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr5:145214857-145215368	Hela-S3	cervix:	n/a	n/a
4	TAL1	chr5:145214836-145215191	K562	blood:	n/a	n/a
5	TCF12	chr5:145214599-145215408	ECC-1	luminal epithelium:	n/a	chr5:145215110-145215120
6	RAD21	chr5:145214762-145215332	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr5:145214518-145215363	K562	blood:	n/a	n/a
8	CHD2	chr5:145214769-145215301	HepG2	liver:	n/a	chr5:145215169-145215179
9	POLR2A	chr5:145214775-145215216	K562	blood:	n/a	n/a
10	RCOR1	chr5:145213854-145215572	K562	blood:	n/a	n/a
11	MXI1	chr5:145214196-145215706	IMR90	lung:	n/a	n/a
12	ZBTB7A	chr5:145214622-145215171	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr5:145215032-145215183	MCF-7	breast:	n/a	chr5:145215112-145215130
14	POLR2A	chr5:145214608-145215319	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:145215000-145215150	WERI-Rb-1	eye:	n/a	chr5:145215112-145215130
16	ELK1	chr5:145214802-145215162	K562	blood:	n/a	n/a
17	ZNF384	chr5:145214732-145215303	K562	blood:	n/a	n/a
18	POLR2A	chr5:145214730-145215416	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr5:145214467-145215312	A549	lung:	n/a	n/a
20	POLR2A	chr5:145214654-145215469	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr5:145214450-145215313	PFSK-1	brain:	n/a	n/a
22	MAX	chr5:145214050-145215662	HepG2	liver:	n/a	chr5:145214993-145215002
23	CTCF	chr5:145214980-145215130	GM12878	blood:	n/a	chr5:145215112-145215130
24	ZBTB7A	chr5:145214515-145215311	ECC-1	luminal epithelium:	n/a	n/a
25	GATA1	chr5:145213111-145215312	PBDE	blood:	n/a	chr5:145213278-145213287
26	POLR2A	chr5:145214592-145215263	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr5:145213976-145215624	HCT-116	colon:	n/a	chr5:145214993-145215002
28	POLR2A	chr5:145214691-145215552	K562	blood:	n/a	n/a
29	MYBL2	chr5:145214413-145215565	HepG2	liver:	n/a	n/a
30	YY1	chr5:145214543-145215260	SK-N-SH	brain:	n/a	n/a
31	EGR1	chr5:145214017-145215475	HCT-116	colon:	n/a	chr5:145214991-145215004 chr5:145214992-145215002 chr5:145214990-145215004 chr5:145214991-145215004 chr5:145214992-145215002 chr5:145214991-145215004 chr5:145214992-145215003 chr5:145214992-145215001 chr5:145214990-145215005 chr5:145214988-145215002 chr5:145214992-145215003
32	CTCF	chr5:145214847-145215317	K562	blood:	n/a	chr5:145215112-145215130
33	CTCF	chr5:145215100-145215250	RPTEC	kidney:	n/a	chr5:145215112-145215130
34	POLR2A	chr5:145214821-145215316	PFSK-1	brain:	n/a	n/a
35	SP1	chr5:145214785-145215142	GM12878	blood:	n/a	chr5:145214995-145215005 chr5:145214989-145214999 chr5:145214989-145214999
36	GTF2F1	chr5:145214545-145215301	K562	blood:	n/a	n/a
37	MBD4	chr5:145215078-145215562	HepG2	liver:	n/a	n/a
38	CTCF	chr5:145215105-145215157	MCF-7	breast:	n/a	chr5:145215112-145215130
39	MAX	chr5:145214140-145215541	K562	blood:	n/a	chr5:145214993-145215002
40	CTCF	chr5:145215000-145215150	AG04450	lung:	n/a	chr5:145215112-145215130
41	MYC	chr5:145214484-145215333	K562	blood:	n/a	chr5:145214993-145215002
42	CEBPB	chr5:145214771-145215443	Hela-S3	cervix:	n/a	n/a
43	SMARCB1	chr5:145214301-145215321	Hela-S3	cervix:	n/a	n/a
44	YY1	chr5:145214798-145215163	GM12878	blood:	n/a	n/a
45	SMC3	chr5:145214835-145215382	HepG2	liver:	n/a	chr5:145215312-145215319
46	MXI1	chr5:145214841-145215339	Hela-S3	cervix:	n/a	n/a
47	MAX	chr5:145213995-145215603	HCT-116	colon:	n/a	chr5:145214993-145215002
48	POLR2A	chr5:145214651-145215227	GM12892	blood:	n/a	n/a
49	CTCF	chr5:145214867-145215230	HepG2	liver:	n/a	chr5:145215112-145215130
50	SIN3A	chr5:145214632-145215137	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:145215125-145215175	HUVEC	blood vessel:	n/a
2	chr5:145215125-145215175	GM06990	blood:	n/a
3	chr5:145215125-145215175	AG09319	gingival:	n/a
4	chr5:145215125-145215175	HL-60	blood:	n/a
5	chr5:145215125-145215175	HRPEpiC	eye:	n/a
6	chr5:145215125-145215175	NHDF-neo	bronchial:	n/a
7	chr5:145215125-145215175	BJ	skin:	n/a
8	chr5:145215125-145215175	HIPEpiC	eye:	n/a
9	chr5:145215125-145215175	ovcar-3	ovarian:	n/a
10	chr5:145215125-145215175	SK-N-SH_RA	brain:	n/a
11	chr5:145215125-145215175	HCPEpiC	choroid plexus:	n/a
12	chr5:145215125-145215175	NB4	blood:	n/a
13	chr5:145215125-145215175	SKMC	muscle:	n/a
14	chr5:145215125-145215175	HCF	heart:	n/a
15	chr5:145215125-145215175	NT2-D1	testis:	n/a
16	chr5:145215125-145215175	HepG2	liver:	n/a
17	chr5:145215125-145215175	HEEpiC	esophagus:	n/a
18	chr5:145215125-145215175	SK-N-MC	brain:	n/a
19	chr5:145215125-145215175	HAEpiC	amniotic membrane:	n/a
20	chr5:145215125-145215175	PrEC	prostate:	n/a
21	chr5:145215125-145215175	MCF-7	breast:	n/a
22	chr5:145215125-145215175	K562	blood:	n/a
23	chr5:145215125-145215175	GM12878	blood:	n/a
24	chr5:145215125-145215175	Caco-2	colon:	n/a
25	chr5:145215125-145215175	HCT-116	colon:	n/a
26	chr5:145215125-145215175	A549	lung:	n/a
27	chr5:145215125-145215175	Hepatocyte	liver:	n/a
28	chr5:145215125-145215175	ProgFib	skin:	n/a
29	chr5:145215125-145215175	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:145215125-145215175	GM12892	blood:	n/a
31	chr5:145215125-145215175	AG10803	skin:	n/a
32	chr5:145215125-145215175	NHBE	bronchial:	n/a
33	chr5:145215125-145215175	PFSK-1	brain:	n/a
34	chr5:145215125-145215175	AG04450	lung:	fetal
35	chr5:145215125-145215175	HEK293	kidney:	embryo
36	chr5:145215125-145215175	HNPCEpiC	eye:	n/a
37	chr5:145215125-145215175	Hela-S3	cervix:	n/a
38	chr5:145215125-145215175	HMEC	breast:	n/a
39	chr5:145215125-145215175	AG04449	skin:	fetal
40	chr5:145215125-145215175	SK-N-SH	brain:	n/a
41	chr5:145215125-145215175	PANC-1	pancreas:	n/a
42	chr5:145215125-145215175	SAEC	small airway:	n/a
43	chr5:145215125-145215175	CMK	blood:	n/a
44	chr5:145215125-145215175	MCF10A-Er-Src	breast:	n/a
45	chr5:145215125-145215175	T-47D	breast:	n/a
46	chr5:145215125-145215175	RPTEC	kidney:	n/a
47	chr5:145215125-145215175	HRE	kidney:	n/a
48	chr5:145215125-145215175	AoSMC	blood vessel:	n/a
49	chr5:145215125-145215175	HCM	heart:	n/a
50	chr5:145215125-145215175	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:231555816..231556662-chr5:145214604..145215280,2	HCT-116	colon:
2	chr17:46125185..46125891-chr5:145214643..145215348,2	HCT-116	colon:
3	chr5:145213219..145215164-chr5:145314647..145317040,2	MCF-7	breast:
4	chr5:145215103..145216674-chr5:145218968..145221764,2	MCF-7	breast:

Variant related genes	Relation type
PRELID2	TF binding region
PRELID2	CpG island
ENSG00000263412	Chromatin interaction
ENSG00000156463	Chromatin interaction
ENSG00000135766	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145212800-145215400	Active TSS	Colonic Mucosa	Colon
2	chr5:145212800-145216000	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:145213000-145215400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:145213200-145215600	Active TSS	NHLF	lung
5	chr5:145213400-145215400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:145213400-145215400	Active TSS	Fetal Intestine Large	intestine
7	chr5:145213400-145215400	Active TSS	Fetal Intestine Small	intestine
8	chr5:145214000-145215200	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr5:145214000-145215200	Active TSS	NH-A	brain
10	chr5:145214000-145215200	Active TSS	NHDF-Ad	bronchial
11	chr5:145214000-145215400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:145214000-145215600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:145214000-145215600	Active TSS	Ovary	ovary
14	chr5:145214000-145215800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:145214200-145215200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr5:145214200-145215200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:145214200-145215200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:145214200-145215200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:145214200-145215200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:145214200-145215200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:145214200-145215200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:145214200-145215200	Active TSS	Brain Angular Gyrus	brain
23	chr5:145214200-145215200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:145214200-145215200	Active TSS	Duodenum Mucosa	Duodenum
25	chr5:145214200-145215200	Active TSS	Fetal Muscle Trunk	muscle
26	chr5:145214200-145215200	Active TSS	Fetal Stomach	stomach
27	chr5:145214200-145215200	Active TSS	Lung	lung
28	chr5:145214200-145215200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr5:145214200-145215200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr5:145214200-145215200	Active TSS	Right Ventricle	heart
31	chr5:145214200-145215200	Active TSS	GM12878-XiMat	blood
32	chr5:145214200-145215200	Active TSS	HSMM	muscle
33	chr5:145214200-145215400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:145214200-145215400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:145214200-145215400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:145214200-145215400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:145214200-145215400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:145214200-145215400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:145214200-145215400	Active TSS	Brain Substantia Nigra	brain
40	chr5:145214200-145215400	Active TSS	Left Ventricle	heart
41	chr5:145214200-145215400	Active TSS	Pancreas	Pancrea
42	chr5:145214200-145215400	Active TSS	Right Atrium	heart
43	chr5:145214200-145215400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr5:145214200-145215400	Active TSS	Small Intestine	intestine
45	chr5:145214200-145215600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:145214200-145215600	Active TSS	Brain Anterior Caudate	brain
47	chr5:145214200-145215600	Active TSS	Brain Hippocampus Middle	brain
48	chr5:145214200-145215600	Active TSS	Colon Smooth Muscle	Colon
49	chr5:145214200-145215600	Active TSS	Esophagus	oesophagus
50	chr5:145214200-145215800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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