Variant report

Variant	rs72931225
Chromosome Location	chr4:125634274-125634275
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	chr4:125634260-125634410	HRPEpiC	eye:	n/a	n/a
2	POLR2A	chr4:125633127-125634815	GM12892	blood:	n/a	n/a
3	NR3C1	chr4:125633826-125634313	A549	lung:	n/a	n/a
4	NFIC	chr4:125632992-125634354	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr4:125633165-125634632	ECC-1	luminal epithelium:	n/a	chr4:125634430-125634438
6	POLR2A	chr4:125633965-125634384	A549	lung:	n/a	n/a
7	POLR2A	chr4:125633006-125634931	U87	brain:	n/a	n/a
8	POLR2A	chr4:125633070-125634889	HEK293	kidney:	n/a	n/a
9	CBX3	chr4:125633914-125634901	K562	blood:	n/a	n/a
10	TAL1	chr4:125634065-125634854	K562	blood:	n/a	chr4:125634563-125634572
11	HEY1	chr4:125633968-125634877	K562	blood:	n/a	chr4:125634075-125634090
12	UBTF	chr4:125632600-125634787	K562	blood:	n/a	n/a
13	MAX	chr4:125633110-125634869	H1-hESC	embryonic stem cell:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
14	RCOR1	chr4:125633634-125634746	HepG2	liver:	n/a	n/a
15	MAX	chr4:125633014-125634877	ECC-1	luminal epithelium:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
16	POLR2A	chr4:125633174-125634709	GM15510	blood:	n/a	n/a
17	CHD2	chr4:125633170-125634725	H1-hESC	embryonic stem cell:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
18	ZC3H11A	chr4:125634062-125634834	K562	blood:	n/a	n/a
19	TCF12	chr4:125633195-125634644	ECC-1	luminal epithelium:	n/a	chr4:125634430-125634438
20	BHLHE40	chr4:125633509-125634811	HepG2	liver:	n/a	chr4:125633856-125633872 chr4:125633857-125633873 chr4:125633859-125633875 chr4:125634073-125634089
21	POLR2A	chr4:125633957-125634382	HepG2	liver:	n/a	n/a
22	RCOR1	chr4:125632521-125634889	K562	blood:	n/a	n/a
23	TAF1	chr4:125634095-125634457	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr4:125634011-125634436	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:125632483-125634878	K562	blood:	n/a	n/a
26	POLR2A	chr4:125633963-125634386	GM12878	blood:	n/a	n/a
27	NR2F2	chr4:125634026-125634914	K562	blood:	n/a	n/a
28	CHD2	chr4:125633201-125634784	K562	blood:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
29	MYC	chr4:125633981-125634378	MCF-7	breast:	n/a	chr4:125634195-125634205 chr4:125634109-125634118
30	POLR2A	chr4:125633691-125634865	K562	blood:	n/a	n/a
31	POLR2A	chr4:125632690-125634772	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr4:125634072-125635198	K562	blood:	n/a	chr4:125634920-125634928 chr4:125634640-125634649
33	POLR2A	chr4:125632539-125635092	K562	blood:	n/a	n/a
34	USF1	chr4:125633951-125634902	SK-N-SH	brain:	n/a	chr4:125634659-125634670 chr4:125634073-125634089
35	REST	chr4:125634027-125634568	A549	lung:	n/a	n/a
36	SP1	chr4:125633136-125634819	A549	lung:	n/a	chr4:125633316-125633325 chr4:125633315-125633327 chr4:125633445-125633459 chr4:125633353-125633365 chr4:125633567-125633579 chr4:125634146-125634158 chr4:125634143-125634156 chr4:125634011-125634020 chr4:125634195-125634209 chr4:125633354-125633363 chr4:125634010-125634024 chr4:125634146-125634158 chr4:125634148-125634157 chr4:125633317-125633326 chr4:125633991-125634003 chr4:125633315-125633326 chr4:125633564-125633577 chr4:125633350-125633364 chr4:125633353-125633364 chr4:125633315-125633327 chr4:125633353-125633365 chr4:125633316-125633325 chr4:125634147-125634156 chr4:125633316-125633326 chr4:125633567-125633579 chr4:125633836-125633850
37	POLR2A	chr4:125632540-125634980	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr4:125632936-125634875	SK-N-SH	brain:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
39	MAZ	chr4:125633706-125634476	GM12878	blood:	n/a	chr4:125634195-125634205 chr4:125634109-125634118
40	POLR2A	chr4:125633043-125634980	K562	blood:	n/a	n/a
41	POLR2A	chr4:125632467-125634930	HUVEC	blood vessel:	n/a	n/a
42	ELF1	chr4:125633035-125634774	MCF-7	breast:	n/a	chr4:125633986-125633998 chr4:125633860-125633869 chr4:125633857-125633866 chr4:125633856-125633868 chr4:125633743-125633755 chr4:125633996-125634005 chr4:125634074-125634083 chr4:125633863-125633872 chr4:125633859-125633871
43	ARID3A	chr4:125634136-125634789	HepG2	liver:	n/a	n/a
44	REST	chr4:125634142-125634411	A549	lung:	n/a	n/a
45	EP300	chr4:125633934-125634377	H1-hESC	embryonic stem cell:	n/a	chr4:125634022-125634038 chr4:125634078-125634087
46	MAZ	chr4:125632375-125634847	K562	blood:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
47	HEY1	chr4:125633987-125634903	K562	blood:	n/a	chr4:125634075-125634090
48	EP300	chr4:125633650-125635108	K562	blood:	n/a	chr4:125633864-125633873 chr4:125634022-125634038 chr4:125634078-125634087 chr4:125633858-125633867 chr4:125633861-125633870
49	POLR2A	chr4:125633075-125634886	PANC-1	pancreas:	n/a	n/a
50	TAF1	chr4:125634038-125634785	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:125634258-125634308	HEK293	kidney:	embryo
2	chr4:125634258-125634308	K562	blood:	n/a
3	chr4:125634258-125634308	HNPCEpiC	eye:	n/a
4	chr4:125634258-125634308	A549	lung:	n/a
5	chr4:125634258-125634308	HIPEpiC	eye:	n/a
6	chr4:125634258-125634308	U87	brain:	n/a
7	chr4:125634258-125634308	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:125634258-125634308	HUVEC	blood vessel:	n/a
9	chr4:125634258-125634308	Hela-S3	cervix:	n/a
10	chr4:125634258-125634308	T-47D	breast:	n/a
11	chr4:125634258-125634308	SK-N-SH	brain:	n/a
12	chr4:125634258-125634308	AG10803	skin:	n/a
13	chr4:125634258-125634308	ProgFib	skin:	n/a
14	chr4:125634258-125634308	GM12892	blood:	n/a
15	chr4:125634258-125634308	SKMC	muscle:	n/a
16	chr4:125634258-125634308	NB4	blood:	n/a
17	chr4:125634258-125634308	IMR90	lung:	fetal
18	chr4:125634258-125634308	NHDF-neo	bronchial:	n/a
19	chr4:125634258-125634308	Caco-2	colon:	n/a
20	chr4:125634258-125634308	BJ	skin:	n/a
21	chr4:125634258-125634308	NT2-D1	testis:	n/a
22	chr4:125634258-125634308	GM19239	blood:	n/a
23	chr4:125634258-125634308	MCF10A-Er-Src	breast:	n/a
24	chr4:125634258-125634308	PFSK-1	brain:	n/a
25	chr4:125634258-125634308	CMK	blood:	n/a
26	chr4:125634258-125634308	MCF-7	breast:	n/a
27	chr4:125634258-125634308	GM12891	blood:	n/a
28	chr4:125634258-125634308	H1-hESC	embryonic stem cell:	embryo
29	chr4:125634258-125634308	GM06990	blood:	n/a
30	chr4:125634258-125634308	SK-N-MC	brain:	n/a
31	chr4:125634258-125634308	HCF	heart:	n/a
32	chr4:125634258-125634308	AG04450	lung:	fetal
33	chr4:125634258-125634308	NH-A	brain:	n/a
34	chr4:125634258-125634308	NHBE	bronchial:	n/a
35	chr4:125634258-125634308	HepG2	liver:	n/a
36	chr4:125634258-125634308	SAEC	small airway:	n/a
37	chr4:125634258-125634308	HCM	heart:	n/a
38	chr4:125634258-125634308	HCT-116	colon:	n/a
39	chr4:125634258-125634308	BE2_C	brain:	n/a
40	chr4:125634258-125634308	ovcar-3	ovarian:	n/a
41	chr4:125634258-125634308	HRE	kidney:	n/a
42	chr4:125634258-125634308	RPTEC	kidney:	n/a
43	chr4:125634258-125634308	PrEC	prostate:	n/a
44	chr4:125634258-125634308	HRCEpiC	kidney:	n/a
45	chr4:125634258-125634308	SK-N-SH_RA	brain:	n/a
46	chr4:125634258-125634308	LNCaP	prostate:	n/a
47	chr4:125634258-125634308	HRPEpiC	eye:	n/a
48	chr4:125634258-125634308	HCPEpiC	choroid plexus:	n/a
49	chr4:125634258-125634308	AoSMC	blood vessel:	n/a
50	chr4:125634258-125634308	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:125634057..125636507-chr4:125646321..125649119,3	MCF-7	breast:
2	chr4:125355738..125360405-chr4:125631320..125634850,4	MCF-7	breast:
3	chr2:37899209..37899972-chr4:125633775..125634624,2	HCT-116	colon:

Variant related genes	Relation type
ANKRD50	TF binding region
ANKRD50	CpG island
ENSG00000163171	Chromatin interaction
ENSG00000248506	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12509989	1.00[ASN][1000 genomes]
rs17008479	1.00[ASN][1000 genomes]
rs3796684	1.00[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	esv3343011	chr4:125632527-125635375	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125630000-125634800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:125630600-125635000	Active TSS	A549	lung
3	chr4:125630600-125635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:125631200-125634600	Active TSS	Brain Cingulate Gyrus	brain
5	chr4:125631400-125634600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr4:125631600-125634400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:125631600-125634400	Active TSS	Fetal Brain Female	brain
8	chr4:125631600-125634600	Active TSS	Fetal Muscle Trunk	muscle
9	chr4:125631600-125634600	Active TSS	Fetal Muscle Leg	muscle
10	chr4:125631600-125634600	Active TSS	Gastric	stomach
11	chr4:125631600-125634600	Active TSS	Lung	lung
12	chr4:125631600-125634600	Active TSS	NHLF	lung
13	chr4:125631600-125634800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:125631600-125634800	Active TSS	Aorta	Aorta
15	chr4:125631600-125634800	Active TSS	Ovary	ovary
16	chr4:125631600-125634800	Active TSS	Right Ventricle	heart
17	chr4:125631800-125634400	Active TSS	Fetal Intestine Small	intestine
18	chr4:125631800-125634400	Active TSS	HSMM	muscle
19	chr4:125631800-125634600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:125631800-125634800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:125631800-125634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:125631800-125634800	Active TSS	Stomach Smooth Muscle	stomach
23	chr4:125632000-125634400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:125632000-125634600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr4:125632000-125634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:125632000-125634600	Active TSS	Brain Angular Gyrus	brain
27	chr4:125632000-125634600	Active TSS	Colon Smooth Muscle	Colon
28	chr4:125632000-125634600	Active TSS	Fetal Stomach	stomach
29	chr4:125632000-125634600	Active TSS	Fetal Thymus	thymus
30	chr4:125632000-125634600	Active TSS	Psoas Muscle	Psoas
31	chr4:125632000-125634600	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:125632000-125635000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:125632200-125634400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:125632200-125634400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:125632200-125634400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:125632200-125634400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:125632200-125634400	Active TSS	Colonic Mucosa	Colon
38	chr4:125632200-125634600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:125632200-125634600	Active TSS	Brain Anterior Caudate	brain
40	chr4:125632200-125634600	Active TSS	Esophagus	oesophagus
41	chr4:125632200-125634600	Active TSS	Fetal Intestine Large	intestine
42	chr4:125632200-125634600	Active TSS	Thymus	Thymus
43	chr4:125632200-125634800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr4:125632200-125634800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:125632200-125634800	Active TSS	Fetal Lung	lung
46	chr4:125632200-125634800	Active TSS	Left Ventricle	heart
47	chr4:125632200-125634800	Active TSS	Hela-S3	cervix
48	chr4:125632200-125635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr4:125632200-125635000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:125632200-125635200	Active TSS	K562	blood

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