Variant report

Variant	rs201291978
Chromosome Location	chr1:156339047-156339048
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:156338638-156339401	HepG2	liver:	n/a	n/a
2	YY1	chr1:156338790-156339167	HCT-116	colon:	n/a	chr1:156338922-156338936 chr1:156338976-156338987
3	CTCF	chr1:156338960-156339110	HRE	kidney:	n/a	n/a
4	MAX	chr1:156338889-156339205	ECC-1	luminal epithelium:	n/a	chr1:156338955-156338965 chr1:156338925-156338935
5	YY1	chr1:156338912-156339231	H1-hESC	embryonic stem cell:	n/a	chr1:156338922-156338936 chr1:156338976-156338987
6	MYBL2	chr1:156338493-156339193	HepG2	liver:	n/a	n/a
7	TBP	chr1:156338920-156339157	HepG2	liver:	n/a	n/a
8	MXI1	chr1:156338730-156339216	HepG2	liver:	n/a	n/a
9	E2F4	chr1:156339041-156339103	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPD	chr1:156338828-156339106	HepG2	liver:	n/a	n/a
11	TAF7	chr1:156338816-156339247	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:156339020-156339170	GM12870	blood:	n/a	n/a
13	TAF1	chr1:156338650-156339181	HepG2	liver:	n/a	n/a
14	HEY1	chr1:156338560-156339508	HepG2	liver:	n/a	chr1:156338975-156338990
15	POLR2A	chr1:156338769-156339282	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:156338818-156339260	ProgFib	skin:	n/a	n/a
17	CEBPD	chr1:156338784-156339276	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:156338685-156339828	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:156338880-156339198	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr1:156338946-156339231	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr1:156338806-156339191	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:156338727-156339210	HepG2	liver:	n/a	n/a
23	SIN3A	chr1:156338949-156339145	H1-hESC	embryonic stem cell:	n/a	n/a
24	HDAC2	chr1:156338633-156339161	HepG2	liver:	n/a	n/a
25	CHD2	chr1:156338854-156339151	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:156336907-156344214	HepG2	liver:	n/a	n/a
27	GTF2F1	chr1:156339039-156339233	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:156338792-156339311	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:156338792-156339225	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:156338730-156339234	HepG2	liver:	n/a	n/a
31	MBD4	chr1:156338815-156339211	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:156338940-156339182	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr1:156338583-156339371	MCF-7	breast:	n/a	chr1:156338955-156338965 chr1:156338925-156338935
34	GATA3	chr1:156338575-156339416	MCF-7	breast:	n/a	chr1:156338736-156338745
35	TBP	chr1:156338891-156339182	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:156338641-156339250	HepG2	liver:	n/a	n/a
37	MAZ	chr1:156338863-156339137	HepG2	liver:	n/a	chr1:156338955-156338965 chr1:156338925-156338935
38	GABPA	chr1:156338761-156339215	H1-hESC	embryonic stem cell:	n/a	chr1:156338955-156338964
39	RAD21	chr1:156338867-156339133	HepG2	liver:	n/a	n/a
40	ZEB1	chr1:156336577-156339970	HepG2	liver:	n/a	chr1:156338920-156338927
41	POLR2A	chr1:156338600-156339892	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr1:156338894-156339144	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:156338698-156339244	HCT-116	colon:	n/a	n/a
44	TAF1	chr1:156338780-156339272	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYBL2	chr1:156338663-156339220	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:156338886-156339247	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:156338760-156339278	MCF-7	breast:	n/a	n/a
48	YY1	chr1:156338631-156339196	HepG2	liver:	n/a	chr1:156338922-156338936 chr1:156338976-156338987
49	ZBTB7A	chr1:156338661-156339104	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:156338759-156339225	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:156339011-156339061	IMR90	lung:	fetal
2	chr1:156339011-156339061	ProgFib	skin:	n/a
3	chr1:156339011-156339061	H1-hESC	embryonic stem cell:	embryo
4	chr1:156339011-156339061	SK-N-MC	brain:	n/a
5	chr1:156339011-156339061	Caco-2	colon:	n/a
6	chr1:156339011-156339061	HMEC	breast:	n/a
7	chr1:156339011-156339061	HCM	heart:	n/a
8	chr1:156339011-156339061	NH-A	brain:	n/a
9	chr1:156339011-156339061	HCPEpiC	choroid plexus:	n/a
10	chr1:156339011-156339061	HRPEpiC	eye:	n/a
11	chr1:156339011-156339061	HCT-116	colon:	n/a
12	chr1:156339011-156339061	AG09319	gingival:	n/a
13	chr1:156339011-156339061	AG09309	skin:	n/a
14	chr1:156339011-156339061	AG10803	skin:	n/a
15	chr1:156339011-156339061	MCF10A-Er-Src	breast:	n/a
16	chr1:156339011-156339061	ovcar-3	ovarian:	n/a
17	chr1:156339011-156339061	SKMC	muscle:	n/a
18	chr1:156339011-156339061	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:156339011-156339061	BE2_C	brain:	n/a
20	chr1:156339011-156339061	T-47D	breast:	n/a
21	chr1:156339011-156339061	NHBE	bronchial:	n/a
22	chr1:156339011-156339061	ECC-1	luminal epithelium:	n/a
23	chr1:156339011-156339061	HEEpiC	esophagus:	n/a
24	chr1:156339011-156339061	HNPCEpiC	eye:	n/a
25	chr1:156339011-156339061	SK-N-SH_RA	brain:	n/a
26	chr1:156339011-156339061	SAEC	small airway:	n/a
27	chr1:156339011-156339061	MCF-7	breast:	n/a
28	chr1:156339011-156339061	HepG2	liver:	n/a
29	chr1:156339011-156339061	AG04449	skin:	fetal
30	chr1:156339011-156339061	RPTEC	kidney:	n/a
31	chr1:156339011-156339061	HL-60	blood:	n/a
32	chr1:156339011-156339061	CMK	blood:	n/a
33	chr1:156339011-156339061	SK-N-SH	brain:	n/a
34	chr1:156339011-156339061	PrEC	prostate:	n/a
35	chr1:156339011-156339061	GM12892	blood:	n/a
36	chr1:156339011-156339061	Hela-S3	cervix:	n/a
37	chr1:156339011-156339061	Hepatocyte	liver:	n/a
38	chr1:156339011-156339061	Jurkat	blood:	n/a
39	chr1:156339011-156339061	PFSK-1	brain:	n/a
40	chr1:156339011-156339061	HUVEC	blood vessel:	n/a
41	chr1:156339011-156339061	NHDF-neo	bronchial:	n/a
42	chr1:156339011-156339061	BJ	skin:	n/a
43	chr1:156339011-156339061	GM12891	blood:	n/a
44	chr1:156339011-156339061	PANC-1	pancreas:	n/a
45	chr1:156339011-156339061	HCF	heart:	n/a
46	chr1:156339011-156339061	A549	lung:	n/a
47	chr1:156339011-156339061	HRE	kidney:	n/a
48	chr1:156339011-156339061	NB4	blood:	n/a
49	chr1:156339011-156339061	HAEpiC	amniotic membrane:	n/a
50	chr1:156339011-156339061	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:156337757..156339382-chr1:156424916..156426755,2	MCF-7	breast:
2	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
3	chr1:156304937..156307794-chr1:156336669..156339422,4	MCF-7	breast:
4	chr1:156305358..156309501-chr1:156336177..156340436,7	MCF-7	breast:

No data

Variant related genes	Relation type
CCT3	TF binding region
CCT3	CpG island
ENSG00000236947	Chromatin interaction
ENSG00000163467	Chromatin interaction
ENSG00000132677	Chromatin interaction
ENSG00000163468	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156336800-156339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:156338200-156341400	Weak transcription	Hela-S3	cervix
3	chr1:156338600-156339200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:156338600-156339200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:156338600-156339200	Bivalent Enhancer	Fetal Brain Male	brain
6	chr1:156338600-156339200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:156338600-156339200	Active TSS	NHEK	skin
8	chr1:156338600-156339400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:156338600-156339400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:156338600-156339400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:156338600-156339400	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:156338600-156339400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr1:156338600-156339600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:156338600-156339600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:156338600-156339600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:156338600-156339600	Flanking Active TSS	Ovary	ovary
17	chr1:156338600-156339600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr1:156338600-156339800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:156338600-156339800	Flanking Active TSS	Liver	Liver
20	chr1:156338800-156339200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr1:156338800-156339200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:156338800-156339200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:156338800-156339200	Active TSS	Brain Angular Gyrus	brain
24	chr1:156338800-156339200	Active TSS	Brain Anterior Caudate	brain
25	chr1:156338800-156339200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr1:156338800-156339200	Active TSS	Esophagus	oesophagus
27	chr1:156338800-156339200	Enhancers	Fetal Heart	heart
28	chr1:156338800-156339200	Active TSS	Fetal Intestine Small	intestine
29	chr1:156338800-156339200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:156338800-156339200	Bivalent/Poised TSS	Stomach Mucosa	stomach
31	chr1:156338800-156339200	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr1:156338800-156339400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:156338800-156339400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:156338800-156339400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:156338800-156339400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:156338800-156339400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
39	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:156338800-156339400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:156338800-156339400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:156338800-156339400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:156338800-156339400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr1:156338800-156339400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:156338800-156339400	Active TSS	Brain Substantia Nigra	brain
48	chr1:156338800-156339400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr1:156338800-156339400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr1:156338800-156339400	Bivalent Enhancer	Fetal Thymus	thymus

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