Variant report

Variant	rs111731923
Chromosome Location	chr5:145215265-145215266
allele	-/A
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	TCF7L2	chr5:145214283-145215370	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr5:145214857-145215368	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr5:145214599-145215408	ECC-1	luminal epithelium:	n/a	chr5:145215110-145215120
4	RAD21	chr5:145214762-145215332	H1-hESC	embryonic stem cell:	n/a	n/a
5	HCFC1	chr5:145214518-145215363	K562	blood:	n/a	n/a
6	CHD2	chr5:145214769-145215301	HepG2	liver:	n/a	chr5:145215169-145215179
7	CTCF	chr5:145215140-145215290	HPAF	blood vessel:	n/a	n/a
8	RCOR1	chr5:145213854-145215572	K562	blood:	n/a	n/a
9	MXI1	chr5:145214196-145215706	IMR90	lung:	n/a	n/a
10	POLR2A	chr5:145214608-145215319	MCF-7	breast:	n/a	n/a
11	ZNF384	chr5:145214732-145215303	K562	blood:	n/a	n/a
12	POLR2A	chr5:145214730-145215416	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr5:145214467-145215312	A549	lung:	n/a	n/a
14	POLR2A	chr5:145214654-145215469	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr5:145214450-145215313	PFSK-1	brain:	n/a	n/a
16	MAX	chr5:145214050-145215662	HepG2	liver:	n/a	chr5:145214993-145215002
17	POLR2A	chr5:145215145-145215516	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr5:145214515-145215311	ECC-1	luminal epithelium:	n/a	n/a
19	GATA1	chr5:145213111-145215312	PBDE	blood:	n/a	chr5:145213278-145213287
20	MAX	chr5:145213976-145215624	HCT-116	colon:	n/a	chr5:145214993-145215002
21	POLR2A	chr5:145214691-145215552	K562	blood:	n/a	n/a
22	MYBL2	chr5:145214413-145215565	HepG2	liver:	n/a	n/a
23	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
24	CTCF	chr5:145214847-145215317	K562	blood:	n/a	chr5:145215112-145215130
25	POLR2A	chr5:145214821-145215316	PFSK-1	brain:	n/a	n/a
26	GTF2F1	chr5:145214545-145215301	K562	blood:	n/a	n/a
27	MBD4	chr5:145215078-145215562	HepG2	liver:	n/a	n/a
28	MAX	chr5:145214140-145215541	K562	blood:	n/a	chr5:145214993-145215002
29	MYC	chr5:145214484-145215333	K562	blood:	n/a	chr5:145214993-145215002
30	CEBPB	chr5:145214771-145215443	Hela-S3	cervix:	n/a	n/a
31	SMARCB1	chr5:145214301-145215321	Hela-S3	cervix:	n/a	n/a
32	SMC3	chr5:145214835-145215382	HepG2	liver:	n/a	chr5:145215312-145215319
33	MXI1	chr5:145214841-145215339	Hela-S3	cervix:	n/a	n/a
34	MAX	chr5:145213995-145215603	HCT-116	colon:	n/a	chr5:145214993-145215002
35	TEAD4	chr5:145214790-145215416	K562	blood:	n/a	n/a
36	MYC	chr5:145214778-145215309	HepG2	liver:	n/a	chr5:145214993-145215002
37	POLR2A	chr5:145214675-145215411	PANC-1	pancreas:	n/a	n/a
38	REST	chr5:145214704-145215461	A549	lung:	n/a	chr5:145215074-145215087
39	MAZ	chr5:145214658-145215705	Hela-S3	cervix:	n/a	chr5:145214993-145215002
40	TRIM28	chr5:145214688-145215314	K562	blood:	n/a	n/a
41	MAX	chr5:145214370-145215537	A549	lung:	n/a	chr5:145214993-145215002
42	MAFK	chr5:145214835-145215555	Hela-S3	cervix:	n/a	n/a
43	NR2F2	chr5:145214177-145215349	K562	blood:	n/a	n/a
44	CEBPB	chr5:145214814-145215274	K562	blood:	n/a	n/a
45	E2F4	chr5:145214514-145215318	MCF10A-Er-Src	breast:	n/a	chr5:145214559-145214566 chr5:145215127-145215137 chr5:145214559-145214566 chr5:145215017-145215027 chr5:145214559-145214566 chr5:145214558-145214570
46	NR2F2	chr5:145214764-145215384	MCF-7	breast:	n/a	n/a
47	EP300	chr5:145214732-145215485	HepG2	liver:	n/a	n/a
48	ZKSCAN1	chr5:145214677-145215498	Hela-S3	cervix:	n/a	n/a
49	HNF4A	chr5:145214736-145215361	HepG2	liver:	n/a	chr5:145215186-145215201 chr5:145215188-145215200
50	CTCF	chr5:145214937-145215268	GM12878	blood:	n/a	chr5:145215112-145215130

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	chr5:145215103..145216674-chr5:145218968..145221764,2	MCF-7	breast:

Variant related genes	Relation type
PRELID2	TF binding region
ENSG00000135766	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000263412	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	chr5:145214000-145215400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:145214000-145215600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:145214000-145215600	Active TSS	Ovary	ovary
11	chr5:145214000-145215800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:145214200-145215400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:145214200-145215400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:145214200-145215400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:145214200-145215400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:145214200-145215400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:145214200-145215400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:145214200-145215400	Active TSS	Brain Substantia Nigra	brain
19	chr5:145214200-145215400	Active TSS	Left Ventricle	heart
20	chr5:145214200-145215400	Active TSS	Pancreas	Pancrea
21	chr5:145214200-145215400	Active TSS	Right Atrium	heart
22	chr5:145214200-145215400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr5:145214200-145215400	Active TSS	Small Intestine	intestine
24	chr5:145214200-145215600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:145214200-145215600	Active TSS	Brain Anterior Caudate	brain
26	chr5:145214200-145215600	Active TSS	Brain Hippocampus Middle	brain
27	chr5:145214200-145215600	Active TSS	Colon Smooth Muscle	Colon
28	chr5:145214200-145215600	Active TSS	Esophagus	oesophagus
29	chr5:145214200-145215800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:145214200-145215800	Active TSS	Aorta	Aorta
31	chr5:145214400-145215400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:145214400-145215400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:145214400-145215400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:145214400-145215400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr5:145214400-145215400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:145214400-145215400	Active TSS	Brain Cingulate Gyrus	brain
37	chr5:145214400-145215400	Active TSS	Fetal Brain Male	brain
38	chr5:145214400-145215400	Active TSS	Gastric	stomach
39	chr5:145214400-145215400	Active TSS	Stomach Mucosa	stomach
40	chr5:145214400-145215400	Active TSS	HSMMtube	muscle
41	chr5:145214400-145215600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:145214400-145215600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:145214400-145215600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:145214400-145215600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr5:145214400-145215600	Active TSS	Psoas Muscle	Psoas
46	chr5:145214400-145215800	Active TSS	Primary T cells from cord blood	blood
47	chr5:145214400-145215800	Active TSS	Fetal Kidney	kidney
48	chr5:145214600-145215400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:145214600-145215400	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
50	chr5:145214600-145215400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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