Variant report

Variant	rs530635243
Chromosome Location	chr4:91048710-91048711
allele	G/T
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	POLR2A	chr4:91048425-91048754	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr4:91048660-91048810	HMEC	breast:	n/a	n/a
3	TAF1	chr4:91048421-91048920	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr4:91048600-91048750	SK-N-SH_RA	brain:	n/a	n/a
5	ELF1	chr4:91048288-91049254	GM12878	blood:	n/a	chr4:91048461-91048473 chr4:91049040-91049052
6	FOXA1	chr4:91048432-91048809	T-47D	breast:	n/a	n/a
7	POLR2A	chr4:91048392-91048872	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:91048271-91049914	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr4:91048314-91048955	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr4:91048428-91048882	Hela-S3	cervix:	n/a	n/a
11	BHLHE40	chr4:91048397-91049079	GM12878	blood:	n/a	chr4:91049042-91049058
12	MYC	chr4:91048584-91050056	MCF10A-Er-Src	breast:	n/a	chr4:91049872-91049881 chr4:91049221-91049230
13	POLR2A	chr4:91048301-91049438	ECC-1	luminal epithelium:	n/a	n/a
14	MYC	chr4:91048324-91049350	MCF-7	breast:	n/a	chr4:91049221-91049230
15	PML	chr4:91048404-91048907	GM12878	blood:	n/a	n/a
16	CTCF	chr4:91048600-91048750	HRE	kidney:	n/a	n/a
17	USF1	chr4:91048432-91049214	ECC-1	luminal epithelium:	n/a	chr4:91049077-91049093 chr4:91049042-91049058
18	POLR2A	chr4:91048410-91048896	HUVEC	blood vessel:	n/a	n/a
19	GATA2	chr4:91047829-91049296	SH-SY5Y	brain:	n/a	chr4:91049230-91049240
20	POLR2A	chr4:91048249-91049524	ProgFib	skin:	n/a	n/a
21	KAP1	chr4:91048220-91048858	U2OS	brain:	n/a	n/a
22	GTF2F1	chr4:91048588-91048728	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr4:91048284-91048812	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:91048435-91048811	GM12892	blood:	n/a	n/a
25	POLR2A	chr4:91048330-91049073	GM12892	blood:	n/a	n/a
26	RAD21	chr4:91048061-91049024	MCF-7	breast:	n/a	n/a
27	TAF1	chr4:91048358-91048923	MCF-7	breast:	n/a	n/a
28	POLR2A	chr4:91048434-91048827	GM12891	blood:	n/a	n/a
29	POLR2A	chr4:91048287-91048977	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr4:91048268-91049891	GM15510	blood:	n/a	n/a
31	POLR2A	chr4:91048472-91049041	Hela-S3	cervix:	n/a	n/a
32	EP300	chr4:91048264-91050124	ECC-1	luminal epithelium:	n/a	chr4:91049258-91049274 chr4:91049272-91049281
33	POLR2A	chr4:91048233-91049369	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:91048370-91049907	GM18505	blood:	n/a	n/a
35	POLR2A	chr4:91048274-91049887	HEK293	kidney:	n/a	n/a
36	KAP1	chr4:91048335-91049252	HEK293	kidney:	n/a	n/a
37	POLR2A	chr4:91048426-91048721	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr4:91048207-91049876	MCF-7	breast:	n/a	n/a
39	PML	chr4:91048309-91049040	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr4:91048246-91048982	HCT-116	colon:	n/a	n/a
41	SIN3A	chr4:91048339-91049942	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:91048439-91048715	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:91048270-91049961	HCT-116	colon:	n/a	n/a
44	POLR2A	chr4:91048211-91050043	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr4:91048222-91050382	GM19193	blood:	n/a	n/a
46	NFIC	chr4:91048229-91049038	ECC-1	luminal epithelium:	n/a	n/a
47	TEAD4	chr4:91048188-91048834	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr4:91048322-91048935	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:91047576-91050111	H1-neurons	neurons:	n/a	n/a
50	CTCF	chr4:91048560-91048710	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:2058702..2060790-chr4:91048350..91050086,2	MCF-7	breast:
2	chr4:91048233..91049088-chr5:95066829..95067559,2	HCT-116	colon:
3	chr4:91048485..91049157-chr9:101983883..101984451,2	Hela-S3	cervix:
4	chr1:33815262..33816159-chr4:91048253..91048899,2	Hela-S3	cervix:

Variant related genes	Relation type
CCSER1	TF binding region
ENSG00000119523	Chromatin interaction
ENSG00000106803	Chromatin interaction
ENSG00000167962	Chromatin interaction
ENSG00000183971	Chromatin interaction
ENSG00000134686	Chromatin interaction
ENSG00000233246	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking 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	22 gene(s)	inside rSNPs	diseases
3	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv879537	chr4:90883047-91165346	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830006	chr4:90971656-91186340	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv879538	chr4:90993172-91080308	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv879539	chr4:91015463-91065352	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3357727	chr4:91048154-91050702	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91047800-91049600	Active TSS	Brain Anterior Caudate	brain
2	chr4:91047800-91049800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:91047800-91051000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr4:91047800-91051200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:91048000-91048800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:91048000-91049000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:91048000-91049000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
8	chr4:91048000-91049000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr4:91048000-91049000	Flanking Active TSS	HUVEC	blood vessel
10	chr4:91048000-91049200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:91048000-91049200	Active TSS	Brain Germinal Matrix	brain
12	chr4:91048000-91049600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr4:91048000-91049600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:91048000-91049600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr4:91048000-91049600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:91048000-91049600	Active TSS	Fetal Brain Male	brain
17	chr4:91048000-91049600	Active TSS	Fetal Kidney	kidney
18	chr4:91048000-91049800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:91048000-91049800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:91048000-91049800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:91048000-91049800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:91048000-91050000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:91048000-91050000	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:91048000-91050000	Active TSS	NHEK	skin
25	chr4:91048000-91050200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:91048000-91050200	Active TSS	Brain Angular Gyrus	brain
27	chr4:91048000-91050400	Active TSS	Brain Hippocampus Middle	brain
28	chr4:91048000-91050600	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:91048000-91050600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:91048000-91050600	Active TSS	Rectal Smooth Muscle	rectum
31	chr4:91048000-91050800	Active TSS	Duodenum Mucosa	Duodenum
32	chr4:91048000-91050800	Active TSS	Fetal Intestine Large	intestine
33	chr4:91048200-91048800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
34	chr4:91048200-91048800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:91048200-91048800	Flanking Active TSS	Colonic Mucosa	Colon
36	chr4:91048200-91049000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr4:91048200-91049000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr4:91048200-91049000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
39	chr4:91048200-91049000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:91048200-91049000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr4:91048200-91049200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:91048200-91049200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr4:91048200-91049600	Active TSS	Esophagus	oesophagus
44	chr4:91048200-91049600	Enhancers	Fetal Heart	heart
45	chr4:91048200-91049800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr4:91048200-91049800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:91048200-91049800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:91048200-91049800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:91048200-91049800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
50	chr4:91048200-91049800	Active TSS	Colon Smooth Muscle	Colon

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