Variant report

Variant	rs149835315
Chromosome Location	chr8:96212920-96212921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:96212603-96213086	HepG2	liver:	n/a	n/a
2	RAD21	chr8:96212673-96213092	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr8:96212635-96213057	Hela-S3	cervix:	n/a	n/a
4	FOXA2	chr8:96212661-96213154	A549	lung:	n/a	n/a
5	EP300	chr8:96212659-96212952	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:96212677-96212998	HepG2	liver:	n/a	n/a
7	NR2F2	chr8:96212390-96213374	MCF-7	breast:	n/a	n/a
8	HDAC2	chr8:96212651-96213049	HepG2	liver:	n/a	chr8:96213014-96213028
9	FOXA1	chr8:96212628-96213038	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:96212662-96213102	HepG2	liver:	n/a	n/a
11	NR2F2	chr8:96212423-96213207	MCF-7	breast:	n/a	n/a
12	GATA3	chr8:96212339-96213258	MCF-7	breast:	n/a	n/a
13	TEAD4	chr8:96212587-96213132	HepG2	liver:	n/a	n/a
14	HDAC2	chr8:96212650-96212984	HepG2	liver:	n/a	n/a
15	FOXA1	chr8:96212780-96212958	T-47D	breast:	n/a	n/a
16	CHD2	chr8:96212913-96212929	HepG2	liver:	n/a	n/a
17	NR2F2	chr8:96212475-96212920	K562	blood:	n/a	n/a
18	MAX	chr8:96212629-96212988	Hela-S3	cervix:	n/a	n/a
19	GTF2F1	chr8:96212578-96213046	Hela-S3	cervix:	n/a	n/a
20	SP1	chr8:96212551-96213068	HepG2	liver:	n/a	n/a
21	FOXA1	chr8:96212542-96213118	HepG2	liver:	n/a	n/a
22	RAD21	chr8:96212867-96212988	HepG2	liver:	n/a	n/a
23	NR2F2	chr8:96212523-96213220	HepG2	liver:	n/a	n/a
24	FOXA2	chr8:96212674-96213023	HepG2	liver:	n/a	n/a
25	CHD2	chr8:96212781-96213059	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr8:96212651-96213085	Hela-S3	cervix:	n/a	n/a
27	EP300	chr8:96212689-96212990	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr8:96212666-96213208	Hela-S3	cervix:	n/a	n/a
29	RXRA	chr8:96212655-96213007	HepG2	liver:	n/a	chr8:96212827-96212838 chr8:96212826-96212839 chr8:96212826-96212839
30	HNF4G	chr8:96212696-96212929	HepG2	liver:	n/a	chr8:96212765-96212773
31	FOXA2	chr8:96212720-96213095	A549	lung:	n/a	n/a
32	SMC3	chr8:96212681-96213179	Hela-S3	cervix:	n/a	n/a
33	JUND	chr8:96212624-96212926	HepG2	liver:	n/a	n/a
34	ARID3A	chr8:96212726-96212965	HepG2	liver:	n/a	n/a
35	NR2F2	chr8:96212626-96213029	HepG2	liver:	n/a	n/a
36	FOXA1	chr8:96212594-96213081	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96210411..96213768-chr8:96214869..96218158,4	K562	blood:
2	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
3	chr8:96210411..96214534-chr8:96214869..96218158,4	K562	blood:
4	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
5	chr8:96201331..96202935-chr8:96212671..96215830,3	K562	blood:
6	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
7	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
8	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:
9	chr8:96205065..96207467-chr8:96211843..96213815,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96205000-96213400	Weak transcription	Lung	lung
2	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
3	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:96208600-96216400	Weak transcription	Gastric	stomach
5	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
6	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
7	chr8:96210800-96214000	Weak transcription	Placenta	Placenta
8	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:96212400-96213000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:96212400-96213200	Enhancers	Primary B cells from cord blood	blood
12	chr8:96212400-96213200	Enhancers	Liver	Liver
13	chr8:96212400-96214000	Flanking Active TSS	HepG2	liver
14	chr8:96212400-96214200	Enhancers	HMEC	breast
15	chr8:96212400-96214600	Enhancers	K562	blood
16	chr8:96212400-96217000	Enhancers	Fetal Thymus	thymus
17	chr8:96212600-96213000	Enhancers	Pancreas	Pancrea
18	chr8:96212600-96213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:96212600-96213400	Enhancers	A549	lung
20	chr8:96212600-96213800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:96212600-96213800	Enhancers	Esophagus	oesophagus
22	chr8:96212600-96214000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:96212600-96214000	Weak transcription	Right Atrium	heart
24	chr8:96212600-96214200	Enhancers	NHEK	skin
25	chr8:96212800-96213000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:96212800-96213800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:96212800-96214400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:96212800-96215600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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