Variant report

Variant	rs7432551
Chromosome Location	chr3:138665029-138665030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:138664948-138666357	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr3:138664989-138666842	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr3:138665017-138666795	K562	blood:	n/a	chr3:138666114-138666124
4	JUND	chr3:138665019-138665400	K562	blood:	n/a	n/a
5	CTCF	chr3:138665028-138665336	A549	lung:	n/a	n/a
6	CTCF	chr3:138664974-138665389	K562	blood:	n/a	n/a
7	GABPA	chr3:138664889-138665374	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr3:138664704-138666204	K562	blood:	n/a	chr3:138664897-138664917 chr3:138666106-138666117 chr3:138665889-138665898
9	TAF1	chr3:138664973-138666613	K562	blood:	n/a	n/a
10	THAP1	chr3:138664992-138665248	K562	blood:	n/a	n/a
11	POLR2A	chr3:138664890-138666825	K562	blood:	n/a	n/a
12	E2F6	chr3:138664902-138665449	A549	lung:	n/a	n/a
13	HCFC1	chr3:138664826-138666363	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr3:138664870-138665355	Hela-S3	cervix:	n/a	n/a
15	TBP	chr3:138664919-138666740	K562	blood:	n/a	n/a
16	E2F4	chr3:138664772-138666227	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
17	MAX	chr3:138664549-138666373	A549	lung:	n/a	chr3:138666114-138666124
18	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
19	E2F6	chr3:138663661-138666655	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
20	POLR2A	chr3:138664964-138665356	Gliobla	brain:	n/a	n/a
21	ELF1	chr3:138664873-138665381	K562	blood:	n/a	n/a
22	CTCF	chr3:138664845-138665543	A549	lung:	n/a	n/a
23	MYC	chr3:138664664-138665415	K562	blood:	n/a	n/a
24	UBTF	chr3:138664715-138666727	K562	blood:	n/a	n/a
25	ZBTB7A	chr3:138664737-138665288	K562	blood:	n/a	n/a
26	POLR2A	chr3:138664945-138665168	A549	lung:	n/a	n/a
27	CTCF	chr3:138665020-138665170	HVMF	connective:	n/a	n/a
28	POLR2A	chr3:138664719-138666765	K562	blood:	n/a	n/a
29	EGR1	chr3:138664990-138665273	K562	blood:	n/a	n/a
30	TCF7L2	chr3:138665024-138665443	Hela-S3	cervix:	n/a	n/a
31	SETDB1	chr3:138663779-138665311	K562	blood:	n/a	n/a
32	CBX3	chr3:138665027-138665486	K562	blood:	n/a	n/a
33	CHD1	chr3:138665004-138665161	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:138665013-138665519	K562	blood:	n/a	n/a
35	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
36	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
37	TBL1XR1	chr3:138665028-138665151	K562	blood:	n/a	n/a
38	MAX	chr3:138663689-138665507	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr3:138665013-138665203	K562	blood:	n/a	n/a
40	MXI1	chr3:138664999-138665380	Hela-S3	cervix:	n/a	n/a
41	YY1	chr3:138664945-138666307	K562	blood:	n/a	chr3:138666106-138666117 chr3:138665889-138665898
42	MAX	chr3:138664843-138665305	A549	lung:	n/a	n/a
43	MAX	chr3:138664794-138665743	ECC-1	luminal epithelium:	n/a	n/a
44	E2F6	chr3:138663622-138666590	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
45	POLR2A	chr3:138665005-138665438	H1-neurons	neurons:	n/a	n/a
46	ETS1	chr3:138664955-138665258	K562	blood:	n/a	n/a
47	SUZ12	chr3:138664896-138665834	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr3:138664941-138665413	A549	lung:	n/a	n/a
49	POLR2A	chr3:138664892-138666622	Hela-S3	cervix:	n/a	n/a
50	THAP1	chr3:138665020-138665265	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138665006-138665056	HRPEpiC	eye:	n/a
2	chr3:138665006-138665056	Hela-S3	cervix:	n/a
3	chr3:138665006-138665056	U87	brain:	n/a
4	chr3:138665006-138665056	MCF-7	breast:	n/a
5	chr3:138665006-138665056	GM12878	blood:	n/a
6	chr3:138665006-138665056	HEK293	kidney:	embryo
7	chr3:138665006-138665056	AG09309	skin:	n/a
8	chr3:138665006-138665056	LNCaP	prostate:	n/a
9	chr3:138665006-138665056	HIPEpiC	eye:	n/a
10	chr3:138665006-138665056	NHBE	bronchial:	n/a
11	chr3:138665006-138665056	HEEpiC	esophagus:	n/a
12	chr3:138665006-138665056	H1-hESC	embryonic stem cell:	embryo
13	chr3:138665006-138665056	HAEpiC	amniotic membrane:	n/a
14	chr3:138665006-138665056	A549	lung:	n/a
15	chr3:138665006-138665056	PANC-1	pancreas:	n/a
16	chr3:138665006-138665056	T-47D	breast:	n/a
17	chr3:138665006-138665056	AG04449	skin:	fetal
18	chr3:138665006-138665056	GM06990	blood:	n/a
19	chr3:138665006-138665056	HepG2	liver:	n/a
20	chr3:138665006-138665056	HRCEpiC	kidney:	n/a
21	chr3:138665006-138665056	MCF10A-Er-Src	breast:	n/a
22	chr3:138665006-138665056	AoSMC	blood vessel:	n/a
23	chr3:138665006-138665056	AG09319	gingival:	n/a
24	chr3:138665006-138665056	HCT-116	colon:	n/a
25	chr3:138665006-138665056	HMEC	breast:	n/a
26	chr3:138665006-138665056	IMR90	lung:	fetal
27	chr3:138665006-138665056	SK-N-SH	brain:	n/a
28	chr3:138665006-138665056	HCM	heart:	n/a
29	chr3:138665006-138665056	SK-N-SH_RA	brain:	n/a
30	chr3:138665006-138665056	GM12892	blood:	n/a
31	chr3:138665006-138665056	SKMC	muscle:	n/a
32	chr3:138665006-138665056	ECC-1	luminal epithelium:	n/a
33	chr3:138665006-138665056	K562	blood:	n/a
34	chr3:138665006-138665056	NH-A	brain:	n/a
35	chr3:138665006-138665056	AG04450	lung:	fetal
36	chr3:138665006-138665056	PFSK-1	brain:	n/a
37	chr3:138665006-138665056	HNPCEpiC	eye:	n/a
38	chr3:138665006-138665056	Caco-2	colon:	n/a
39	chr3:138665006-138665056	Jurkat	blood:	n/a
40	chr3:138665006-138665056	HUVEC	blood vessel:	n/a
41	chr3:138665006-138665056	PrEC	prostate:	n/a
42	chr3:138665006-138665056	SAEC	small airway:	n/a
43	chr3:138665006-138665056	NHDF-neo	bronchial:	n/a
44	chr3:138665006-138665056	NB4	blood:	n/a
45	chr3:138665006-138665056	HCF	heart:	n/a
46	chr3:138665006-138665056	HCPEpiC	choroid plexus:	n/a
47	chr3:138665006-138665056	Hepatocyte	liver:	n/a
48	chr3:138665006-138665056	GM19239	blood:	n/a
49	chr3:138665006-138665056	ovcar-3	ovarian:	n/a
50	chr3:138665006-138665056	RPTEC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138662930..138665142-chr3:139048462..139050899,2	K562	blood:
2	chr3:138663277..138665291-chr3:138920079..138922965,2	K562	blood:
3	chr3:138663376..138665458-chr3:138892996..138895666,2	K562	blood:
4	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:

No data

Variant related genes	Relation type
C3orf72	TF binding region
ENSG00000244578	TF binding region
ENSG00000244578	CpG island
C3orf72	CpG island
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13064974	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56679446	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57084332	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57106095	0.83[AMR][1000 genomes]
rs57908668	0.83[AMR][1000 genomes]
rs58880010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60291969	0.81[AFR][1000 genomes]
rs61750361	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439830	0.83[AMR][1000 genomes]
rs7617892	0.83[AMR][1000 genomes]
rs7620461	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7626152	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7639044	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7644875	0.83[AMR][1000 genomes]
rs931250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3338518	chr3:138663787-138666635	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv530096	chr3:138664024-138665683	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr3:138663000-138665200	Bivalent Enhancer	Liver	Liver
4	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
7	chr3:138663200-138665200	Bivalent Enhancer	Placenta	Placenta
8	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
10	chr3:138663400-138665200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr3:138663400-138665200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:138663600-138665400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:138663800-138665200	Bivalent Enhancer	Left Ventricle	heart
20	chr3:138663800-138665400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:138663800-138665800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
22	chr3:138663800-138666200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr3:138663800-138666400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:138663800-138666400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:138663800-138666400	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr3:138664000-138666200	Bivalent/Poised TSS	HSMM	muscle
27	chr3:138664200-138665200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr3:138664200-138665200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
29	chr3:138664200-138665200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr3:138664200-138665800	Enhancers	Gastric	stomach
31	chr3:138664200-138666400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:138664200-138666600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:138664400-138665200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr3:138664400-138665400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
35	chr3:138664400-138666000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr3:138664400-138666400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:138664400-138666600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:138664400-138666600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:138664400-138666800	Active TSS	NHDF-Ad	bronchial
40	chr3:138664600-138665200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:138664600-138665200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr3:138664600-138665200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
43	chr3:138664600-138665200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:138664600-138665400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr3:138664600-138665600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:138664600-138665800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr3:138664600-138666000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr3:138664600-138666400	Active TSS	Aorta	Aorta
49	chr3:138664600-138666600	Active TSS	K562	blood
50	chr3:138664600-138668800	Active TSS	Ovary	ovary

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