Variant report

Variant	rs548941262
Chromosome Location	chr2:85980817-85980818
allele	C/G
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	POLR2A	chr2:85980642-85981470	HUVEC	blood vessel:	n/a	n/a
2	SIN3A	chr2:85980651-85981502	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr2:85980575-85980827	H1-hESC	embryonic stem cell:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
4	USF1	chr2:85980437-85980969	H1-hESC	embryonic stem cell:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
5	TCF7L2	chr2:85980560-85982278	HCT-116	colon:	n/a	chr2:85981977-85981991
6	E2F6	chr2:85980750-85982405	A549	lung:	n/a	chr2:85980931-85980938
7	USF1	chr2:85980547-85980850	K562	blood:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
8	MAX	chr2:85980493-85982879	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
9	POLR2A	chr2:85980706-85981340	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr2:85980574-85980899	NB4	blood:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
11	CTBP2	chr2:85980328-85982657	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr2:85980706-85980906	GM12878	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
13	USF1	chr2:85980490-85980957	ECC-1	luminal epithelium:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
14	E2F6	chr2:85980287-85981483	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980931-85980938
15	MYC	chr2:85980731-85981075	NB4	blood:	n/a	chr2:85980971-85980981
16	BHLHE40	chr2:85980635-85980830	K562	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
17	POLR2A	chr2:85980769-85982739	HUVEC	blood vessel:	n/a	n/a
18	TCF12	chr2:85980660-85982516	A549	lung:	n/a	n/a
19	JUND	chr2:85980720-85981463	A549	lung:	n/a	n/a
20	POLR2A	chr2:85980497-85982286	ProgFib	skin:	n/a	n/a
21	E2F6	chr2:85980258-85980922	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471
22	USF1	chr2:85980503-85980915	H1-hESC	embryonic stem cell:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
23	MAX	chr2:85980394-85980981	H1-hESC	embryonic stem cell:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
24	FOXA2	chr2:85980699-85981380	A549	lung:	n/a	chr2:85981049-85981061
25	POLR2A	chr2:85980740-85982247	HUVEC	blood vessel:	n/a	n/a
26	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
27	FOXA1	chr2:85980796-85981180	HepG2	liver:	n/a	chr2:85981049-85981061
28	TCF12	chr2:85980654-85981462	SK-N-SH	brain:	n/a	n/a
29	USF1	chr2:85980593-85980821	HepG2	liver:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
30	HDAC2	chr2:85980787-85981300	HepG2	liver:	n/a	n/a
31	FOXA2	chr2:85980734-85981348	A549	lung:	n/a	chr2:85981049-85981061
32	MAX	chr2:85980438-85980964	H1-hESC	embryonic stem cell:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
33	MAX	chr2:85980561-85982499	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
34	POLR2A	chr2:85980780-85981389	HUVEC	blood vessel:	n/a	n/a
35	TCF7L2	chr2:85980809-85982366	PANC-1	pancreas:	n/a	chr2:85981977-85981991

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85980803-85980853	HRCEpiC	kidney:	n/a
2	chr2:85980788-85980838	IMR90	lung:	fetal
3	chr2:85980788-85980838	MCF-7	breast:	n/a
4	chr2:85980782-85980832	SK-N-MC	brain:	n/a
5	chr2:85980803-85980853	AG09309	skin:	n/a
6	chr2:85980782-85980832	HEK293	kidney:	embryo
7	chr2:85980788-85980838	NT2-D1	testis:	n/a
8	chr2:85980788-85980838	AG04450	lung:	fetal
9	chr2:85980782-85980832	HCPEpiC	choroid plexus:	n/a
10	chr2:85980782-85980832	MCF10A-Er-Src	breast:	n/a
11	chr2:85980782-85980832	Hepatocyte	liver:	n/a
12	chr2:85980788-85980838	HCPEpiC	choroid plexus:	n/a
13	chr2:85980803-85980853	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:85980782-85980832	BJ	skin:	n/a
15	chr2:85980803-85980853	GM19239	blood:	n/a
16	chr2:85980782-85980832	AG09319	gingival:	n/a
17	chr2:85980803-85980853	BE2_C	brain:	n/a
18	chr2:85980803-85980853	HCPEpiC	choroid plexus:	n/a
19	chr2:85980782-85980832	HAEpiC	amniotic membrane:	n/a
20	chr2:85980782-85980832	CMK	blood:	n/a
21	chr2:85980782-85980832	HRPEpiC	eye:	n/a
22	chr2:85980803-85980853	HUVEC	blood vessel:	n/a
23	chr2:85980803-85980853	Caco-2	colon:	n/a
24	chr2:85980803-85980853	BJ	skin:	n/a
25	chr2:85980803-85980853	SK-N-SH_RA	brain:	n/a
26	chr2:85980788-85980838	AG09309	skin:	n/a
27	chr2:85980782-85980832	ovcar-3	ovarian:	n/a
28	chr2:85980782-85980832	HepG2	liver:	n/a
29	chr2:85980782-85980832	NHBE	bronchial:	n/a
30	chr2:85980803-85980853	IMR90	lung:	fetal
31	chr2:85980788-85980838	HRE	kidney:	n/a
32	chr2:85980782-85980832	AG04449	skin:	fetal
33	chr2:85980788-85980838	NB4	blood:	n/a
34	chr2:85980782-85980832	HCT-116	colon:	n/a
35	chr2:85980782-85980832	HCM	heart:	n/a
36	chr2:85980788-85980838	Hepatocyte	liver:	n/a
37	chr2:85980782-85980832	HRCEpiC	kidney:	n/a
38	chr2:85980788-85980838	Jurkat	blood:	n/a
39	chr2:85980782-85980832	HL-60	blood:	n/a
40	chr2:85980782-85980832	ECC-1	luminal epithelium:	n/a
41	chr2:85980782-85980832	AG04450	lung:	fetal
42	chr2:85980803-85980853	U87	brain:	n/a
43	chr2:85980782-85980832	GM12878	blood:	n/a
44	chr2:85980803-85980853	HCF	heart:	n/a
45	chr2:85980782-85980832	SK-N-SH_RA	brain:	n/a
46	chr2:85980782-85980832	SK-N-SH	brain:	n/a
47	chr2:85980803-85980853	NHBE	bronchial:	n/a
48	chr2:85980788-85980838	ovcar-3	ovarian:	n/a
49	chr2:85980788-85980838	HCF	heart:	n/a
50	chr2:85980788-85980838	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
2	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:

Variant related genes	Relation type
ATOH8	TF binding region
ATOH8	CpG island
ENSG00000168874	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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3326551	chr2:85980466-85983314	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv829487	chr2:85980599-85983121	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85980000-85981000	Bivalent Enhancer	Fetal Thymus	thymus
2	chr2:85980000-85981000	Enhancers	Gastric	stomach
3	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:85980000-85983400	Active TSS	Right Atrium	heart
6	chr2:85980200-85981000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:85980200-85981200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr2:85980200-85981400	Bivalent/Poised TSS	Colonic Mucosa	Colon
9	chr2:85980200-85981600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
10	chr2:85980200-85982400	Active TSS	Fetal Kidney	kidney
11	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
12	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:85980200-85983400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:85980200-85983600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr2:85980200-85984400	Active TSS	Aorta	Aorta
16	chr2:85980400-85981000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:85980400-85981000	Bivalent/Poised TSS	Thymus	Thymus
18	chr2:85980400-85981000	Bivalent/Poised TSS	NHEK	skin
19	chr2:85980400-85981200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr2:85980400-85981200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:85980400-85981400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:85980400-85981400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
23	chr2:85980400-85981600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:85980400-85981800	Weak transcription	Fetal Heart	heart
25	chr2:85980400-85982000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:85980400-85982200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr2:85980400-85982200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:85980400-85982200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr2:85980400-85982400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:85980400-85982400	Active TSS	Brain Angular Gyrus	brain
31	chr2:85980400-85982600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:85980400-85982600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:85980400-85982600	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:85980400-85982600	Active TSS	Colon Smooth Muscle	Colon
35	chr2:85980400-85982800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:85980400-85982800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:85980400-85983000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:85980400-85983000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:85980400-85983200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr2:85980400-85983400	Active TSS	Brain Substantia Nigra	brain
41	chr2:85980400-85983600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:85980400-85983800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr2:85980600-85981000	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr2:85980600-85981000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
45	chr2:85980600-85981200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:85980600-85981400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:85980600-85981400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:85980600-85981400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:85980600-85981400	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr2:85980600-85981600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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