Variant report

Variant	rs373458663
Chromosome Location	chr1:10057169-10057170
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:10057166-10057634	H1-hESC	embryonic stem cell:	n/a	chr1:10057406-10057416
2	BACH1	chr1:10056884-10057287	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:10057140-10057452	HCT-116	colon:	n/a	n/a
4	MAX	chr1:10056892-10058253	ECC-1	luminal epithelium:	n/a	chr1:10057726-10057735
5	POLR2A	chr1:10057098-10057576	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr1:10057122-10057595	ECC-1	luminal epithelium:	n/a	n/a
7	E2F6	chr1:10057008-10057741	H1-hESC	embryonic stem cell:	n/a	chr1:10057406-10057416
8	MAX	chr1:10056825-10057668	ECC-1	luminal epithelium:	n/a	n/a
9	E2F6	chr1:10057078-10057283	K562	blood:	n/a	n/a
10	MAX	chr1:10056934-10058254	H1-hESC	embryonic stem cell:	n/a	chr1:10057726-10057735
11	POLR2A	chr1:10057112-10057564	ECC-1	luminal epithelium:	n/a	n/a
12	SPI1	chr1:10056853-10057229	HL-60	blood:	n/a	chr1:10057091-10057098
13	POLR2A	chr1:10057001-10057507	HCT-116	colon:	n/a	n/a
14	MAX	chr1:10057135-10057830	H1-hESC	embryonic stem cell:	n/a	chr1:10057726-10057735
15	ZBTB7A	chr1:10057031-10058116	ECC-1	luminal epithelium:	n/a	chr1:10057503-10057514 chr1:10058058-10058066
16	MYC	chr1:10057167-10057179	MCF-7	breast:	n/a	n/a
17	ZBTB7A	chr1:10056938-10058139	ECC-1	luminal epithelium:	n/a	chr1:10057503-10057514 chr1:10058058-10058066
18	MAX	chr1:10057135-10057596	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10057168-10057218	HNPCEpiC	eye:	n/a
2	chr1:10057168-10057218	AG09319	gingival:	n/a
3	chr1:10057168-10057218	U87	brain:	n/a
4	chr1:10057158-10057208	PFSK-1	brain:	n/a
5	chr1:10057168-10057218	HEK293	kidney:	embryo
6	chr1:10057158-10057208	SK-N-SH	brain:	n/a
7	chr1:10057168-10057218	GM12878	blood:	n/a
8	chr1:10057168-10057218	LNCaP	prostate:	n/a
9	chr1:10057168-10057218	HCF	heart:	n/a
10	chr1:10057168-10057218	HepG2	liver:	n/a
11	chr1:10057158-10057208	K562	blood:	n/a
12	chr1:10057168-10057218	NT2-D1	testis:	n/a
13	chr1:10057168-10057218	HL-60	blood:	n/a
14	chr1:10057158-10057208	HepG2	liver:	n/a
15	chr1:10057158-10057208	AG09319	gingival:	n/a
16	chr1:10057168-10057218	MCF-7	breast:	n/a
17	chr1:10057168-10057218	GM12892	blood:	n/a
18	chr1:10057168-10057218	HEEpiC	esophagus:	n/a
19	chr1:10057158-10057208	Jurkat	blood:	n/a
20	chr1:10057168-10057218	SK-N-SH_RA	brain:	n/a
21	chr1:10057158-10057208	HRPEpiC	eye:	n/a
22	chr1:10057158-10057208	HRCEpiC	kidney:	n/a
23	chr1:10057168-10057218	HRCEpiC	kidney:	n/a
24	chr1:10057168-10057218	RPTEC	kidney:	n/a
25	chr1:10057168-10057218	GM06990	blood:	n/a
26	chr1:10057168-10057218	GM19239	blood:	n/a
27	chr1:10057168-10057218	ovcar-3	ovarian:	n/a
28	chr1:10057168-10057218	SAEC	small airway:	n/a
29	chr1:10057158-10057208	IMR90	lung:	fetal
30	chr1:10057168-10057218	HRPEpiC	eye:	n/a
31	chr1:10057168-10057218	SKMC	muscle:	n/a
32	chr1:10057158-10057208	NHDF-neo	bronchial:	n/a
33	chr1:10057158-10057208	HAEpiC	amniotic membrane:	n/a
34	chr1:10057158-10057208	HCPEpiC	choroid plexus:	n/a
35	chr1:10057168-10057218	H1-hESC	embryonic stem cell:	embryo
36	chr1:10057168-10057218	PANC-1	pancreas:	n/a
37	chr1:10057158-10057208	CMK	blood:	n/a
38	chr1:10057168-10057218	HAEpiC	amniotic membrane:	n/a
39	chr1:10057158-10057208	AG09309	skin:	n/a
40	chr1:10057168-10057218	GM12891	blood:	n/a
41	chr1:10057168-10057218	HIPEpiC	eye:	n/a
42	chr1:10057158-10057208	HNPCEpiC	eye:	n/a
43	chr1:10057158-10057208	AoSMC	blood vessel:	n/a
44	chr1:10057158-10057208	HRE	kidney:	n/a
45	chr1:10057168-10057218	HUVEC	blood vessel:	n/a
46	chr1:10057158-10057208	SK-N-MC	brain:	n/a
47	chr1:10057168-10057218	BJ	skin:	n/a
48	chr1:10057168-10057218	Hela-S3	cervix:	n/a
49	chr1:10057158-10057208	PANC-1	pancreas:	n/a
50	chr1:10057158-10057208	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10056745..10057479-chr4:1283519..1284439,2	HCT-116	colon:

No data

Variant related genes	Relation type
RBP7	TF binding region
RBP7	CpG island
ENSG00000090316	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv3394408	chr1:10056190-10058738	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3398287	chr1:10056590-10059138	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10042800-10057200	Weak transcription	Gastric	stomach
2	chr1:10053200-10057400	Weak transcription	Spleen	Spleen
3	chr1:10056600-10057200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:10056600-10057200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:10056600-10057200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr1:10056600-10057200	Enhancers	Placenta	Placenta
7	chr1:10056600-10057200	Bivalent Enhancer	HUVEC	blood vessel
8	chr1:10056600-10057200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr1:10056600-10057400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10056600-10057400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr1:10056600-10057400	Enhancers	Brain Angular Gyrus	brain
12	chr1:10056600-10057600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:10056600-10058400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:10056800-10057200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:10056800-10057200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr1:10056800-10057200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:10056800-10057200	Active TSS	Colonic Mucosa	Colon
18	chr1:10056800-10057200	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr1:10056800-10057200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr1:10056800-10057200	Flanking Bivalent TSS/Enh	NHEK	skin
21	chr1:10056800-10057400	Active TSS	Right Atrium	heart
22	chr1:10056800-10058200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr1:10056800-10058400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr1:10056800-10058400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr1:10056800-10058400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:10056800-10058400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:10056800-10058400	Enhancers	Liver	Liver
28	chr1:10056800-10058400	Active TSS	Brain Anterior Caudate	brain
29	chr1:10056800-10058400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:10056800-10059000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:10057000-10057200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:10057000-10057200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:10057000-10057200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:10057000-10057200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:10057000-10057200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr1:10057000-10057200	Active TSS	Brain Hippocampus Middle	brain
43	chr1:10057000-10057200	Active TSS	Fetal Heart	heart
44	chr1:10057000-10057200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr1:10057000-10057400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:10057000-10057400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:10057000-10057400	Active TSS	Primary hematopoietic stem cells	blood
48	chr1:10057000-10057400	Active TSS	Esophagus	oesophagus
49	chr1:10057000-10057400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr1:10057000-10057400	Active TSS	Pancreas	Pancrea

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