Variant report

Variant	rs28535544
Chromosome Location	chr4:8594354-8594355
allele	A/C
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	EP300	chr4:8594306-8594543	K562	blood:	n/a	n/a
2	SMARCB1	chr4:8594066-8595262	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr4:8594306-8594684	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr4:8594293-8594609	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr4:8594267-8594579	K562	blood:	n/a	n/a
6	TBL1XR1	chr4:8594322-8594536	K562	blood:	n/a	n/a
7	POLR2A	chr4:8594323-8595398	K562	blood:	n/a	n/a
8	NRF1	chr4:8594352-8594550	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr4:8594022-8594626	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr4:8594180-8595754	K562	blood:	n/a	chr4:8595737-8595747 chr4:8595259-8595269 chr4:8594665-8594675 chr4:8595137-8595146
11	EGR1	chr4:8594292-8594677	K562	blood:	n/a	chr4:8594661-8594671
12	RCOR1	chr4:8594170-8594572	K562	blood:	n/a	n/a
13	CCNT2	chr4:8594231-8595394	K562	blood:	n/a	chr4:8594298-8594307 chr4:8595237-8595246
14	CTCF	chr4:8594260-8594530	AG04449	skin:	n/a	n/a
15	TEAD4	chr4:8594057-8594407	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr4:8594351-8594602	K562	blood:	n/a	n/a
17	MAZ	chr4:8594286-8594554	Hela-S3	cervix:	n/a	n/a
18	SIN3A	chr4:8594215-8595278	H1-hESC	embryonic stem cell:	n/a	chr4:8594947-8594958
19	HMGN3	chr4:8594197-8594678	K562	blood:	n/a	n/a
20	ZBTB7A	chr4:8594302-8594543	K562	blood:	n/a	n/a
21	TBP	chr4:8594099-8594506	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr4:8594312-8594436	K562	blood:	n/a	n/a
23	BHLHE40	chr4:8594327-8594941	K562	blood:	n/a	n/a
24	HDAC2	chr4:8594344-8594534	K562	blood:	n/a	n/a
25	ARID3A	chr4:8594303-8594474	K562	blood:	n/a	n/a
26	ZBTB7A	chr4:8593992-8595284	ECC-1	luminal epithelium:	n/a	n/a
27	ZBTB7A	chr4:8593974-8595368	ECC-1	luminal epithelium:	n/a	n/a
28	CHD2	chr4:8594245-8594465	H1-hESC	embryonic stem cell:	n/a	chr4:8594299-8594309
29	MAZ	chr4:8594020-8596559	IMR90	lung:	n/a	chr4:8594030-8594039 chr4:8595737-8595747 chr4:8595259-8595269 chr4:8594665-8594675 chr4:8595137-8595146
30	RAD21	chr4:8594285-8594531	IMR90	lung:	n/a	n/a
31	TEAD4	chr4:8594018-8594439	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr4:8594312-8595416	K562	blood:	n/a	chr4:8595259-8595269 chr4:8594665-8594675 chr4:8595137-8595146
33	ZNF143	chr4:8594205-8594447	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr4:8594296-8594632	K562	blood:	n/a	n/a
35	SP1	chr4:8594122-8594693	H1-hESC	embryonic stem cell:	n/a	chr4:8594376-8594390 chr4:8594370-8594384 chr4:8594320-8594329 chr4:8594318-8594330 chr4:8594299-8594308 chr4:8594299-8594308 chr4:8594318-8594330 chr4:8594659-8594673 chr4:8594297-8594309 chr4:8594320-8594329 chr4:8594665-8594679 chr4:8594369-8594380 chr4:8594298-8594307 chr4:8594319-8594328

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8594324-8594374	AoSMC	blood vessel:	n/a
2	chr4:8594324-8594374	BE2_C	brain:	n/a
3	chr4:8594324-8594374	NHBE	bronchial:	n/a
4	chr4:8594324-8594374	MCF10A-Er-Src	breast:	n/a
5	chr4:8594324-8594374	SK-N-SH_RA	brain:	n/a
6	chr4:8594324-8594374	AG04450	lung:	fetal
7	chr4:8594324-8594374	ECC-1	luminal epithelium:	n/a
8	chr4:8594324-8594374	HAEpiC	amniotic membrane:	n/a
9	chr4:8594324-8594374	HNPCEpiC	eye:	n/a
10	chr4:8594324-8594374	GM12891	blood:	n/a
11	chr4:8594324-8594374	U87	brain:	n/a
12	chr4:8594324-8594374	Jurkat	blood:	n/a
13	chr4:8594324-8594374	LNCaP	prostate:	n/a
14	chr4:8594324-8594374	Hela-S3	cervix:	n/a
15	chr4:8594324-8594374	PrEC	prostate:	n/a
16	chr4:8594324-8594374	A549	lung:	n/a
17	chr4:8594324-8594374	NH-A	brain:	n/a
18	chr4:8594324-8594374	GM19239	blood:	n/a
19	chr4:8594324-8594374	SK-N-SH	brain:	n/a
20	chr4:8594324-8594374	HMEC	breast:	n/a
21	chr4:8594324-8594374	HUVEC	blood vessel:	n/a
22	chr4:8594324-8594374	BJ	skin:	n/a
23	chr4:8594324-8594374	H1-hESC	embryonic stem cell:	embryo
24	chr4:8594324-8594374	ProgFib	skin:	n/a
25	chr4:8594324-8594374	HL-60	blood:	n/a
26	chr4:8594324-8594374	SAEC	small airway:	n/a
27	chr4:8594324-8594374	Caco-2	colon:	n/a
28	chr4:8594324-8594374	K562	blood:	n/a
29	chr4:8594324-8594374	HRPEpiC	eye:	n/a
30	chr4:8594324-8594374	RPTEC	kidney:	n/a
31	chr4:8594324-8594374	MCF-7	breast:	n/a
32	chr4:8594324-8594374	SKMC	muscle:	n/a
33	chr4:8594324-8594374	Hepatocyte	liver:	n/a
34	chr4:8594324-8594374	GM12878	blood:	n/a
35	chr4:8594324-8594374	T-47D	breast:	n/a
36	chr4:8594324-8594374	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:8594324-8594374	PFSK-1	brain:	n/a
38	chr4:8594324-8594374	PANC-1	pancreas:	n/a
39	chr4:8594324-8594374	NHDF-neo	bronchial:	n/a
40	chr4:8594324-8594374	AG10803	skin:	n/a
41	chr4:8594324-8594374	HEEpiC	esophagus:	n/a
42	chr4:8594324-8594374	GM06990	blood:	n/a
43	chr4:8594324-8594374	SK-N-MC	brain:	n/a
44	chr4:8594324-8594374	HRCEpiC	kidney:	n/a
45	chr4:8594324-8594374	HIPEpiC	eye:	n/a
46	chr4:8594324-8594374	HCPEpiC	choroid plexus:	n/a
47	chr4:8594324-8594374	NB4	blood:	n/a
48	chr4:8594324-8594374	IMR90	lung:	fetal
49	chr4:8594324-8594374	NT2-D1	testis:	n/a
50	chr4:8594324-8594374	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8582157..8584012-chr4:8592733..8594974,2	MCF-7	breast:

Variant related genes	Relation type
CPZ	TF binding region
CPZ	CpG island
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10034521	1.00[EUR][1000 genomes]
rs28427068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28517271	1.00[EUR][1000 genomes]
rs28556953	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28720933	1.00[EUR][1000 genomes]
rs73088266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998719	1.00[EUR][1000 genomes]
rs9998778	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv878613	chr4:8554894-8618916	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878620	chr4:8584879-8674871	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv470015	chr4:8584879-8729638	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv878621	chr4:8584879-9371116	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8593200-8594400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:8593400-8594600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr4:8593800-8595600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:8594000-8594400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
6	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:8594000-8594400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8594000-8594400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:8594000-8594400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	Osteobl	bone
12	chr4:8594000-8594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:8594000-8594800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr4:8594000-8595000	Bivalent Enhancer	Fetal Heart	heart
15	chr4:8594000-8595200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:8594000-8595200	Bivalent Enhancer	Fetal Lung	lung
17	chr4:8594000-8595400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:8594000-8595400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:8594000-8596200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr4:8594200-8594400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:8594200-8594400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:8594200-8594400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:8594200-8594400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:8594200-8594400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr4:8594200-8594400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr4:8594200-8594400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr4:8594200-8594400	Bivalent Enhancer	Right Ventricle	heart
33	chr4:8594200-8594400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	HSMM	muscle
35	chr4:8594200-8594400	Flanking Active TSS	HSMMtube	muscle
36	chr4:8594200-8594400	Bivalent Enhancer	NH-A	brain
37	chr4:8594200-8594400	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
38	chr4:8594200-8594600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:8594200-8594600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:8594200-8594600	Bivalent Enhancer	Colon Smooth Muscle	Colon
41	chr4:8594200-8594600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr4:8594200-8594600	Bivalent Enhancer	Placenta	Placenta
43	chr4:8594200-8594600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr4:8594200-8594600	Bivalent Enhancer	NHLF	lung
45	chr4:8594200-8594800	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr4:8594200-8594800	Bivalent Enhancer	Fetal Brain Male	brain
47	chr4:8594200-8594800	Bivalent/Poised TSS	HepG2	liver
48	chr4:8594200-8595200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:8594200-8595200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr4:8594200-8595200	Active TSS	Hela-S3	cervix

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