Variant report

Variant	rs554066848
Chromosome Location	chr4:106819347-106819348
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	JUND	chr4:106819321-106819748	HepG2	liver:	n/a	n/a
2	JUND	chr4:106819336-106819588	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr4:106819091-106819907	MCF-7	breast:	n/a	chr4:106819423-106819434
4	FOXA1	chr4:106819273-106819925	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:106819323-106819908	HepG2	liver:	n/a	n/a
6	GATA3	chr4:106819261-106819659	MCF-7	breast:	n/a	chr4:106819423-106819434
7	MYBL2	chr4:106819339-106819880	HepG2	liver:	n/a	n/a
8	KAP1	chr4:106819159-106819897	HEK293	kidney:	n/a	n/a
9	ZZZ3	chr4:106819302-106819569	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr4:106819310-106819787	MCF-7	breast:	n/a	chr4:106819423-106819434
11	FOXA1	chr4:106819312-106819772	HepG2	liver:	n/a	n/a
12	FOXA2	chr4:106819156-106820175	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106817938..106820838-chr4:106829455..106833276,3	MCF-7	breast:

Variant related genes	Relation type
INTS12	TF binding region
ENSG00000168743	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2418320	chr4:106819289-106819690	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106818000-106819400	Bivalent Enhancer	HepG2	liver
2	chr4:106818000-106824400	Weak transcription	Small Intestine	intestine
3	chr4:106818000-106844800	Weak transcription	Psoas Muscle	Psoas
4	chr4:106818200-106819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:106818200-106819400	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:106818200-106819400	Enhancers	Hela-S3	cervix
7	chr4:106818200-106819400	Enhancers	NHEK	skin
8	chr4:106818200-106820200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr4:106818200-106830400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:106818400-106819400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr4:106818400-106819600	Enhancers	Fetal Heart	heart
12	chr4:106818800-106819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:106818800-106819400	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr4:106819000-106819400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr4:106819000-106819400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr4:106819000-106819400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:106819000-106819400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:106819000-106819400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:106819000-106819400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:106819000-106819400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:106819000-106819400	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:106819200-106819400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr4:106819200-106819400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr4:106819200-106819400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr4:106819200-106819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:106819200-106819400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr4:106819200-106819400	Flanking Active TSS	Pancreas	Pancrea
28	chr4:106819200-106819600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr4:106819200-106819800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr4:106819200-106820000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr4:106819200-106821400	Weak transcription	HSMMtube	muscle
32	chr4:106819200-106836200	Weak transcription	Aorta	Aorta
33	chr4:106819200-106844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links