Variant report

Variant	rs115410492
Chromosome Location	chr4:74312482-74312483
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	CTCF	chr4:74312440-74312590	RPTEC	kidney:	n/a	n/a
2	CTCF	chr4:74311822-74312712	A549	lung:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
3	GATA3	chr4:74312105-74312618	SH-SY5Y	brain:	n/a	n/a
4	CTCF	chr4:74312440-74312590	SAEC	small airway:	n/a	n/a
5	CTCF	chr4:74312400-74312550	AG04450	lung:	n/a	n/a
6	MYBL2	chr4:74310188-74314988	HepG2	liver:	n/a	n/a
7	CTCF	chr4:74312440-74312590	HMEC	breast:	n/a	n/a
8	NFIC	chr4:74311826-74312681	HepG2	liver:	n/a	n/a
9	CTCF	chr4:74312440-74312590	HFF-Myc	foreskin:	n/a	n/a
10	GATA3	chr4:74312008-74312574	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr4:74312420-74312570	HAc	cerebellar:	n/a	n/a
12	CTCF	chr4:74312380-74312530	K562	blood:	n/a	n/a
13	RAD21	chr4:74311919-74312702	SK-N-SH	brain:	n/a	chr4:74312261-74312280
14	CTCF	chr4:74311859-74312685	HCT-116	colon:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
15	POLR2A	chr4:74302367-74315627	HepG2	liver:	n/a	n/a
16	HEY1	chr4:74309966-74315656	HepG2	liver:	n/a	n/a
17	CTCF	chr4:74312400-74312550	HRE	kidney:	n/a	n/a
18	GATA3	chr4:74312017-74312595	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr4:74312420-74312570	HVMF	connective:	n/a	n/a
20	RAD21	chr4:74312026-74312497	HepG2	liver:	n/a	chr4:74312261-74312280
21	MBD4	chr4:74309828-74312852	HepG2	liver:	n/a	n/a
22	GATA3	chr4:74312063-74312525	T-47D	breast:	n/a	n/a
23	CTCF	chr4:74312400-74312550	HPF	lung:	n/a	n/a
24	CTCF	chr4:74311955-74312523	H1-hESC	embryonic stem cell:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
25	RAD21	chr4:74311950-74312489	ECC-1	luminal epithelium:	n/a	chr4:74312261-74312280
26	POLR2A	chr4:74312129-74312550	HepG2	liver:	n/a	n/a
27	CTCF	chr4:74311917-74312509	IMR90	lung:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
28	CTCF	chr4:74312420-74312570	A549	lung:	n/a	n/a
29	CTCF	chr4:74312440-74312590	AG10803	skin:	n/a	n/a
30	GATA2	chr4:74312093-74312488	K562	blood:	n/a	n/a
31	CTCF	chr4:74312420-74312570	HRE	kidney:	n/a	n/a
32	JUND	chr4:74312039-74312624	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr4:74312420-74312570	AG09309	skin:	n/a	n/a
34	CTCF	chr4:74312033-74312535	H1-hESC	embryonic stem cell:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
35	CTCF	chr4:74312420-74312570	AG09319	gingival:	n/a	n/a
36	CTCF	chr4:74312400-74312550	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr4:74312420-74312570	HPAF	blood vessel:	n/a	n/a
38	POLR2A	chr4:74307189-74315598	HepG2	liver:	n/a	n/a
39	CTCF	chr4:74312420-74312570	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:74311897-74312595	K562	blood:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
41	TEAD4	chr4:74311186-74312850	HepG2	liver:	n/a	n/a
42	CTCF	chr4:74312420-74312570	GM06990	blood:	n/a	n/a
43	SMC3	chr4:74312029-74312525	HepG2	liver:	n/a	n/a
44	CTCF	chr4:74312013-74312558	A549	lung:	n/a	chr4:74312258-74312279 chr4:74312263-74312281
45	CTCF	chr4:74312420-74312570	RPTEC	kidney:	n/a	n/a
46	CTCF	chr4:74312380-74312530	GM12801	blood:	n/a	n/a
47	MYBL2	chr4:74311921-74312686	HepG2	liver:	n/a	n/a
48	RAD21	chr4:74312011-74312540	HCT-116	colon:	n/a	chr4:74312261-74312280
49	CTCF	chr4:74312400-74312550	AG09319	gingival:	n/a	n/a
50	CTCF	chr4:74312380-74312530	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74177054..74177984-chr4:74311787..74312670,5	MCF-7	breast:
2	chr4:74311780..74312697-chr4:74519035..74519771,3	MCF-7	breast:
3	chr4:74176660..74177830-chr4:74312110..74312752,4	MCF-7	breast:
4	chr4:74206401..74207863-chr4:74311210..74313292,12	MCF-7	breast:
5	chr4:74207042..74207824-chr4:74311798..74312657,3	MCF-7	breast:
6	chr4:74206756..74207673-chr4:74311795..74312505,4	K562	blood:

Variant related genes	Relation type
AFP	TF binding region

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	esv3430875	chr4:74243646-74420354	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2326887	chr4:74312156-74312582	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74303400-74317200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:74303600-74315800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:74308400-74313400	Weak transcription	NH-A	brain
4	chr4:74308600-74313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:74309600-74315400	Genic enhancers	HepG2	liver
6	chr4:74310000-74315200	Enhancers	Liver	Liver
7	chr4:74311000-74316000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:74311200-74313400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:74311400-74316400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:74311600-74314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:74312200-74313200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:74312200-74313200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:74312200-74313200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:74312200-74314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:74312400-74312800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:74312400-74314000	Enhancers	NHEK	skin

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