Variant report

Variant	rs574807490
Chromosome Location	chr4:100495729-100495730
allele	C/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	SP1	chr4:100495638-100496247	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:100495665-100496171	HepG2	liver:	n/a	n/a
3	FOXA2	chr4:100495728-100496173	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:100495662-100496202	HepG2	liver:	n/a	n/a
5	HNF4A	chr4:100495699-100496153	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
6	NFIC	chr4:100495688-100496214	HepG2	liver:	n/a	n/a
7	HDAC2	chr4:100495709-100496105	HepG2	liver:	n/a	n/a
8	FOXA2	chr4:100495563-100496461	HepG2	liver:	n/a	n/a
9	HNF4G	chr4:100495675-100496262	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
10	MBD4	chr4:100495703-100496349	HepG2	liver:	n/a	n/a
11	HDAC2	chr4:100495705-100496198	HepG2	liver:	n/a	n/a
12	ARID3A	chr4:100495701-100496496	HepG2	liver:	n/a	n/a
13	MYBL2	chr4:100495474-100496594	HepG2	liver:	n/a	n/a
14	EP300	chr4:100495667-100496229	HepG2	liver:	n/a	n/a
15	NR2F2	chr4:100495592-100496362	HepG2	liver:	n/a	n/a
16	HEY1	chr4:100495684-100496359	HepG2	liver:	n/a	n/a
17	NFIC	chr4:100495659-100496373	HepG2	liver:	n/a	n/a
18	NR2F2	chr4:100495716-100496297	HepG2	liver:	n/a	n/a
19	MYBL2	chr4:100495687-100496289	HepG2	liver:	n/a	n/a
20	ZNF384	chr4:100495620-100496670	GM12878	blood:	n/a	n/a
21	TEAD4	chr4:100495534-100496467	HepG2	liver:	n/a	n/a
22	FOXA1	chr4:100495676-100496242	HepG2	liver:	n/a	n/a
23	EP300	chr4:100495693-100496094	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
2	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:

Variant related genes	Relation type
MTTP	TF binding region
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1833664	chr4:100495571-100504985	Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100493800-100495800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:100494200-100495800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:100494400-100495800	Weak transcription	Aorta	Aorta
4	chr4:100494600-100495800	Enhancers	Fetal Intestine Small	intestine
5	chr4:100495000-100495800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:100495000-100495800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:100495000-100496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:100495200-100495800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:100495200-100495800	Weak transcription	Ovary	ovary
10	chr4:100495200-100495800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:100495200-100496000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:100495200-100496000	Flanking Active TSS	HepG2	liver
13	chr4:100495400-100496200	Flanking Active TSS	Liver	Liver
14	chr4:100495400-100497000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:100495600-100495800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr4:100495600-100495800	Active TSS	Stomach Smooth Muscle	stomach
17	chr4:100495600-100495800	Enhancers	GM12878-XiMat	blood
18	chr4:100495600-100496000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:100495600-100496000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:100495600-100497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:100495600-100497200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:100495600-100500400	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links