Variant report

Variant	rs36047187
Chromosome Location	chr4:128704525-128704526
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	MAZ	chr4:128704226-128704725	HepG2	liver:	n/a	n/a
2	RELA	chr4:128703002-128704744	GM12891	blood:	n/a	n/a
3	POLR2A	chr4:128702808-128704715	K562	blood:	n/a	n/a
4	MYC	chr4:128702635-128705037	K562	blood:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
5	YY1	chr4:128704023-128704609	H1-hESC	embryonic stem cell:	n/a	chr4:128704209-128704223
6	GTF2B	chr4:128704047-128704599	K562	blood:	n/a	n/a
7	TEAD4	chr4:128704241-128704752	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr4:128704110-128704935	MCF10A-Er-Src	breast:	n/a	chr4:128704730-128704742
9	MAX	chr4:128702506-128704862	A549	lung:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
10	CEBPB	chr4:128703524-128704686	HepG2	liver:	n/a	chr4:128704156-128704169
11	ARID3A	chr4:128704302-128704787	HepG2	liver:	n/a	n/a
12	TAF1	chr4:128704265-128704660	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr4:128703299-128705533	Hela-S3	cervix:	n/a	n/a
14	MAX	chr4:128702451-128704919	A549	lung:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
15	MXI1	chr4:128704314-128704703	K562	blood:	n/a	n/a
16	MAFK	chr4:128702834-128704636	Hela-S3	cervix:	n/a	chr4:128703344-128703361
17	TEAD4	chr4:128704330-128704723	A549	lung:	n/a	n/a
18	POLR2A	chr4:128703029-128704669	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr4:128703082-128704760	HL-60	blood:	n/a	n/a
20	POLR2A	chr4:128704513-128704531	GM12878	blood:	n/a	n/a
21	PML	chr4:128703095-128704748	K562	blood:	n/a	n/a
22	MYC	chr4:128702722-128704738	Hela-S3	cervix:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
23	SIN3A	chr4:128702736-128704693	H1-hESC	embryonic stem cell:	n/a	chr4:128704210-128704223 chr4:128702862-128702875
24	RCOR1	chr4:128702601-128704558	GM12878	blood:	n/a	n/a
25	JUND	chr4:128702904-128704780	K562	blood:	n/a	chr4:128704730-128704742 chr4:128703244-128703253
26	TAL1	chr4:128703992-128704840	K562	blood:	n/a	n/a
27	RCOR1	chr4:128704423-128704649	HepG2	liver:	n/a	n/a
28	MAX	chr4:128702415-128704710	ECC-1	luminal epithelium:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
29	RCOR1	chr4:128702696-128704683	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr4:128703333-128704711	GM12891	blood:	n/a	n/a
31	EP300	chr4:128702030-128705461	SK-N-SH	brain:	n/a	chr4:128702275-128702285 chr4:128702355-128702369 chr4:128704355-128704368 chr4:128702321-128702335 chr4:128703033-128703042 chr4:128703038-128703047
32	MAX	chr4:128702734-128704568	A549	lung:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
33	TAF1	chr4:128703044-128704675	K562	blood:	n/a	n/a
34	MAZ	chr4:128702719-128704545	GM12878	blood:	n/a	chr4:128702792-128702801
35	RFX5	chr4:128702823-128704788	Hela-S3	cervix:	n/a	chr4:128703089-128703104 chr4:128703089-128703104 chr4:128703089-128703104
36	POLR2A	chr4:128703272-128704724	HepG2	liver:	n/a	n/a
37	BHLHE40	chr4:128703316-128704638	HepG2	liver:	n/a	chr4:128703366-128703382 chr4:128704206-128704222 chr4:128704209-128704225
38	MAX	chr4:128703066-128704888	HepG2	liver:	n/a	n/a
39	MYBL2	chr4:128704163-128704544	HepG2	liver:	n/a	n/a
40	ZNF263	chr4:128703324-128704747	HEK293-T-REx	kidney:	n/a	chr4:128704224-128704233
41	MAX	chr4:128702443-128704739	MCF-7	breast:	n/a	chr4:128702816-128702826 chr4:128702792-128702801
42	STAT3	chr4:128704072-128705384	MCF10A-Er-Src	breast:	n/a	chr4:128704226-128704238
43	TBP	chr4:128702838-128704918	K562	blood:	n/a	n/a
44	POLR2A	chr4:128704363-128704543	GM12878	blood:	n/a	n/a
45	E2F6	chr4:128702391-128704631	K562	blood:	n/a	chr4:128703429-128703438 chr4:128702885-128702894 chr4:128702781-128702790 chr4:128703037-128703047 chr4:128702684-128702694 chr4:128703262-128703274
46	TBL1XR1	chr4:128703358-128704765	K562	blood:	n/a	n/a
47	TEAD4	chr4:128704264-128704726	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr4:128704323-128704599	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr4:128704439-128704608	Hela-S3	cervix:	n/a	n/a
50	MAX	chr4:128702338-128704753	ECC-1	luminal epithelium:	n/a	chr4:128702816-128702826 chr4:128702792-128702801

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:128704518-128704568	Hepatocyte	liver:	n/a
2	chr4:128704518-128704568	HAEpiC	amniotic membrane:	n/a
3	chr4:128704518-128704568	ProgFib	skin:	n/a
4	chr4:128704518-128704568	HEK293	kidney:	embryo
5	chr4:128704518-128704568	GM19239	blood:	n/a
6	chr4:128704518-128704568	RPTEC	kidney:	n/a
7	chr4:128704518-128704568	Jurkat	blood:	n/a
8	chr4:128704518-128704568	BE2_C	brain:	n/a
9	chr4:128704518-128704568	HL-60	blood:	n/a
10	chr4:128704518-128704568	NHDF-neo	bronchial:	n/a
11	chr4:128704518-128704568	SK-N-MC	brain:	n/a
12	chr4:128704518-128704568	GM06990	blood:	n/a
13	chr4:128704518-128704568	SK-N-SH_RA	brain:	n/a
14	chr4:128704518-128704568	HRPEpiC	eye:	n/a
15	chr4:128704518-128704568	NB4	blood:	n/a
16	chr4:128704518-128704568	HIPEpiC	eye:	n/a
17	chr4:128704518-128704568	HRCEpiC	kidney:	n/a
18	chr4:128704518-128704568	SAEC	small airway:	n/a
19	chr4:128704518-128704568	ovcar-3	ovarian:	n/a
20	chr4:128704518-128704568	PrEC	prostate:	n/a
21	chr4:128704518-128704568	NHBE	bronchial:	n/a
22	chr4:128704518-128704568	GM12892	blood:	n/a
23	chr4:128704518-128704568	BJ	skin:	n/a
24	chr4:128704518-128704568	HEEpiC	esophagus:	n/a
25	chr4:128704518-128704568	HRE	kidney:	n/a
26	chr4:128704518-128704568	NH-A	brain:	n/a
27	chr4:128704518-128704568	U87	brain:	n/a
28	chr4:128704518-128704568	HCM	heart:	n/a
29	chr4:128704518-128704568	GM12891	blood:	n/a
30	chr4:128704518-128704568	IMR90	lung:	fetal
31	chr4:128704518-128704568	AG10803	skin:	n/a
32	chr4:128704518-128704568	GM12878	blood:	n/a
33	chr4:128704518-128704568	PANC-1	pancreas:	n/a
34	chr4:128704518-128704568	H1-hESC	embryonic stem cell:	embryo
35	chr4:128704518-128704568	A549	lung:	n/a
36	chr4:128704518-128704568	HNPCEpiC	eye:	n/a
37	chr4:128704518-128704568	HepG2	liver:	n/a
38	chr4:128704518-128704568	HCPEpiC	choroid plexus:	n/a
39	chr4:128704518-128704568	HCF	heart:	n/a
40	chr4:128704518-128704568	SK-N-SH	brain:	n/a
41	chr4:128704518-128704568	AG04449	skin:	fetal
42	chr4:128704518-128704568	PFSK-1	brain:	n/a
43	chr4:128704518-128704568	AG04450	lung:	fetal
44	chr4:128704518-128704568	SKMC	muscle:	n/a
45	chr4:128704518-128704568	HUVEC	blood vessel:	n/a
46	chr4:128704518-128704568	AG09319	gingival:	n/a
47	chr4:128704518-128704568	LNCaP	prostate:	n/a
48	chr4:128704518-128704568	MCF-7	breast:	n/a
49	chr4:128704518-128704568	ECC-1	luminal epithelium:	n/a
50	chr4:128704518-128704568	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:128702580..128705894-chr4:128810025..128813296,3	K562	blood:
2	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
3	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
4	chr4:128702203..128705505-chr4:128800773..128804170,4	MCF-7	breast:
5	chr19:41222374..41223187-chr4:128703821..128704556,2	Hela-S3	cervix:
6	chr4:128701212..128704782-chr4:128885853..128888301,4	MCF-7	breast:
7	chr4:128702304..128707255-chr4:128884841..128889595,9	K562	blood:
8	chr4:128702147..128704685-chr4:128980177..128982661,2	MCF-7	breast:
9	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
10	chr4:128702265..128705282-chr4:128884841..128889213,7	K562	blood:
11	chr4:128701911..128705042-chr4:128800160..128804699,6	K562	blood:

Variant related genes	Relation type
HSPA4L	TF binding region
HSPA4L	CpG island
ENSG00000138709	Chromatin interaction
ENSG00000164074	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000251821	Chromatin interaction
ENSG00000142731	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000151466	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10493147	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11098937	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13122568	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1380154	0.82[ASN][1000 genomes]
rs1459050	0.82[ASN][1000 genomes]
rs4833391	0.82[ASN][1000 genomes]
rs72681831	0.81[ASN][1000 genomes]
rs72681844	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72681849	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1792152	chr4:128585215-128752829	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv830057	chr4:128591288-128788777	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv879926	chr4:128652227-128766074	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv879927	chr4:128668850-128766074	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128702200-128706800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:128702400-128704600	Active TSS	Fetal Kidney	kidney
3	chr4:128702400-128704800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:128702400-128704800	Active TSS	Colonic Mucosa	Colon
5	chr4:128702400-128705000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:128702400-128705000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr4:128702400-128705000	Active TSS	Fetal Brain Male	brain
8	chr4:128702400-128705800	Active TSS	Brain Anterior Caudate	brain
9	chr4:128702400-128706000	Active TSS	Brain Angular Gyrus	brain
10	chr4:128702400-128706000	Active TSS	Brain Hippocampus Middle	brain
11	chr4:128702400-128706000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:128702400-128706000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:128702400-128706000	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:128702600-128704600	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:128702600-128704800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:128702600-128704800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:128702600-128704800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:128702600-128704800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:128702600-128704800	Active TSS	Psoas Muscle	Psoas
20	chr4:128702600-128704800	Active TSS	Rectal Smooth Muscle	rectum
21	chr4:128702600-128705000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:128702600-128705600	Active TSS	A549	lung
23	chr4:128702600-128705800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:128702600-128706200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:128702800-128704600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:128702800-128704600	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr4:128702800-128704600	Active TSS	Gastric	stomach
28	chr4:128702800-128704600	Active TSS	Stomach Mucosa	stomach
29	chr4:128702800-128704800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:128702800-128704800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr4:128702800-128704800	Active TSS	Duodenum Mucosa	Duodenum
32	chr4:128702800-128704800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr4:128702800-128704800	Active TSS	Ovary	ovary
34	chr4:128702800-128704800	Active TSS	Right Atrium	heart
35	chr4:128702800-128704800	Active TSS	Right Ventricle	heart
36	chr4:128702800-128705000	Active TSS	Colon Smooth Muscle	Colon
37	chr4:128702800-128705200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:128702800-128705200	Active TSS	NHDF-Ad	bronchial
39	chr4:128702800-128705600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr4:128702800-128705800	Active TSS	Aorta	Aorta
41	chr4:128702800-128705800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:128702800-128705800	Active TSS	HSMMtube	muscle
43	chr4:128702800-128705800	Active TSS	NHEK	skin
44	chr4:128702800-128706000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:128702800-128706000	Active TSS	Brain Substantia Nigra	brain
46	chr4:128702800-128706000	Active TSS	Hela-S3	cervix
47	chr4:128702800-128706200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:128702800-128706400	Active TSS	K562	blood
49	chr4:128703000-128704600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:128703000-128704600	Active TSS	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links