Variant report

Variant	rs377169806
Chromosome Location	chr2:48756996-48756997
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	E2F6	chr2:48756849-48757338	H1-hESC	embryonic stem cell:	n/a	chr2:48756997-48757006
2	E2F6	chr2:48756854-48757237	H1-hESC	embryonic stem cell:	n/a	chr2:48756997-48757006
3	ZNF263	chr2:48756857-48757992	K562	blood:	n/a	n/a
4	ZNF263	chr2:48756209-48758874	HEK293-T-REx	kidney:	n/a	n/a
5	ZBTB7A	chr2:48756832-48758054	ECC-1	luminal epithelium:	n/a	n/a
6	ZNF143	chr2:48756875-48757117	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr2:48756847-48757462	K562	blood:	n/a	chr2:48756997-48757007 chr2:48756996-48757006 chr2:48757176-48757190 chr2:48756993-48757002 chr2:48756991-48757005 chr2:48756991-48757006 chr2:48756987-48757009 chr2:48756992-48757005 chr2:48756992-48757005 chr2:48757162-48757176 chr2:48756992-48757005 chr2:48756992-48757005
8	POLR2A	chr2:48756818-48757095	GM12878	blood:	n/a	n/a
9	MAZ	chr2:48756460-48757862	K562	blood:	n/a	chr2:48756809-48756819
10	MAX	chr2:48756892-48757333	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr2:48756828-48757373	K562	blood:	n/a	chr2:48756997-48757007 chr2:48756996-48757006 chr2:48757176-48757190 chr2:48756993-48757002 chr2:48756991-48757005 chr2:48756991-48757006 chr2:48756987-48757009 chr2:48756992-48757005 chr2:48756992-48757005 chr2:48757162-48757176 chr2:48756992-48757005 chr2:48756992-48757005
12	MAZ	chr2:48756430-48759198	IMR90	lung:	n/a	chr2:48756809-48756819
13	MAZ	chr2:48756958-48757126	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:48756933-48757500	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48756994-48757044	MCF-7	breast:	n/a
2	chr2:48756994-48757044	HCM	heart:	n/a
3	chr2:48756994-48757044	BE2_C	brain:	n/a
4	chr2:48756994-48757044	A549	lung:	n/a
5	chr2:48756994-48757044	PrEC	prostate:	n/a
6	chr2:48756994-48757044	CMK	blood:	n/a
7	chr2:48756994-48757044	U87	brain:	n/a
8	chr2:48756994-48757044	Hepatocyte	liver:	n/a
9	chr2:48756994-48757044	ProgFib	skin:	n/a
10	chr2:48756994-48757044	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:48756994-48757044	NB4	blood:	n/a
12	chr2:48756994-48757044	MCF10A-Er-Src	breast:	n/a
13	chr2:48756994-48757044	NHBE	bronchial:	n/a
14	chr2:48756994-48757044	HCF	heart:	n/a
15	chr2:48756994-48757044	HAEpiC	amniotic membrane:	n/a
16	chr2:48756994-48757044	ovcar-3	ovarian:	n/a
17	chr2:48756994-48757044	NH-A	brain:	n/a
18	chr2:48756994-48757044	H1-hESC	embryonic stem cell:	embryo
19	chr2:48756994-48757044	SK-N-SH_RA	brain:	n/a
20	chr2:48756994-48757044	PFSK-1	brain:	n/a
21	chr2:48756994-48757044	LNCaP	prostate:	n/a
22	chr2:48756994-48757044	HUVEC	blood vessel:	n/a
23	chr2:48756994-48757044	K562	blood:	n/a
24	chr2:48756994-48757044	HRPEpiC	eye:	n/a
25	chr2:48756994-48757044	Hela-S3	cervix:	n/a
26	chr2:48756994-48757044	GM06990	blood:	n/a
27	chr2:48756994-48757044	HCPEpiC	choroid plexus:	n/a
28	chr2:48756994-48757044	AoSMC	blood vessel:	n/a
29	chr2:48756994-48757044	NT2-D1	testis:	n/a
30	chr2:48756994-48757044	AG04449	skin:	fetal
31	chr2:48756994-48757044	NHDF-neo	bronchial:	n/a
32	chr2:48756994-48757044	GM12878	blood:	n/a
33	chr2:48756994-48757044	T-47D	breast:	n/a
34	chr2:48756994-48757044	HRE	kidney:	n/a
35	chr2:48756994-48757044	SK-N-SH	brain:	n/a
36	chr2:48756994-48757044	AG04450	lung:	fetal
37	chr2:48756994-48757044	SAEC	small airway:	n/a
38	chr2:48756994-48757044	HL-60	blood:	n/a
39	chr2:48756994-48757044	Caco-2	colon:	n/a
40	chr2:48756994-48757044	HepG2	liver:	n/a
41	chr2:48756994-48757044	Jurkat	blood:	n/a
42	chr2:48756994-48757044	GM19239	blood:	n/a
43	chr2:48756994-48757044	HCT-116	colon:	n/a
44	chr2:48756994-48757044	SK-N-MC	brain:	n/a
45	chr2:48756994-48757044	PANC-1	pancreas:	n/a
46	chr2:48756994-48757044	RPTEC	kidney:	n/a
47	chr2:48756994-48757044	HEK293	kidney:	embryo
48	chr2:48756994-48757044	SKMC	muscle:	n/a
49	chr2:48756994-48757044	ECC-1	luminal epithelium:	n/a
50	chr2:48756994-48757044	BJ	skin:	n/a

Variant related genes	Relation type
STON1-GTF2A1L	TF binding region
STON1	TF binding region
STON1-GTF2A1L	CpG island
STON1	CpG island

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	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3390375	chr2:48755948-48758496	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3359548	chr2:48756073-48758621	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:48743400-48757400	Weak transcription	Gastric	stomach
4	chr2:48753200-48757000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:48756400-48757000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:48756400-48757200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:48756400-48757200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:48756400-48757800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:48756400-48757800	Active TSS	HSMM	muscle
10	chr2:48756400-48758000	Enhancers	Fetal Brain Male	brain
11	chr2:48756400-48758000	Flanking Active TSS	Dnd41	blood
12	chr2:48756400-48758600	Active TSS	Fetal Kidney	kidney
13	chr2:48756400-48759000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:48756600-48757000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:48756600-48757000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:48756600-48757000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:48756600-48757000	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr2:48756600-48757000	Flanking Active TSS	Right Atrium	heart
19	chr2:48756600-48757400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:48756600-48757600	Weak transcription	Fetal Heart	heart
21	chr2:48756600-48757600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:48756600-48757600	Active TSS	GM12878-XiMat	blood
23	chr2:48756600-48758000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:48756600-48758000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:48756600-48758000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:48756600-48758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:48756600-48758400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:48756600-48758600	Active TSS	Fetal Lung	lung
29	chr2:48756600-48758800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:48756600-48758800	Active TSS	Duodenum Mucosa	Duodenum
31	chr2:48756600-48759000	Active TSS	Colon Smooth Muscle	Colon
32	chr2:48756600-48759000	Active TSS	Fetal Brain Female	brain
33	chr2:48756600-48759800	Active TSS	Stomach Smooth Muscle	stomach
34	chr2:48756800-48757000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr2:48756800-48757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:48756800-48757000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:48756800-48757000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:48756800-48757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:48756800-48757000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:48756800-48757000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:48756800-48757000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:48756800-48757000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:48756800-48757000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:48756800-48757000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:48756800-48757000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:48756800-48757000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:48756800-48757000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr2:48756800-48757000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:48756800-48757000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:48756800-48757000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links