Variant report

Variant	rs565850899
Chromosome Location	chr12:117318720-117318721
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	MAX	chr12:117318618-117319364	MCF-7	breast:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
2	ZNF143	chr12:117318643-117319019	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:117318620-117318770	GM12874	blood:	n/a	n/a
4	MAX	chr12:117318667-117319491	ECC-1	luminal epithelium:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
5	POLR2A	chr12:117318389-117319304	Raji	blood:	n/a	n/a
6	CTCF	chr12:117318689-117319121	T-47D	breast:	n/a	n/a
7	POLR2A	chr12:117318420-117320691	H1-neurons	neurons:	n/a	n/a
8	MYC	chr12:117318489-117319161	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr12:117318628-117319081	H1-hESC	embryonic stem cell:	n/a	chr12:117318731-117318744
10	CTCF	chr12:117318720-117318870	BJ	skin:	n/a	n/a
11	TBP	chr12:117318453-117319365	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:117318603-117319243	H1-hESC	embryonic stem cell:	n/a	n/a
13	SMARCB1	chr12:117318446-117319520	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:117318511-117319350	A549	lung:	n/a	chr12:117319323-117319336
15	E2F6	chr12:117318716-117319182	K562	blood:	n/a	n/a
16	ZNF143	chr12:117318448-117318934	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr12:117318653-117319228	HepG2	liver:	n/a	n/a
18	MAX	chr12:117318632-117319490	H1-hESC	embryonic stem cell:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
19	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
20	POLR2A	chr12:117318608-117319332	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr12:117318637-117319669	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:117318718-117319072	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr12:117318702-117319439	ECC-1	luminal epithelium:	n/a	chr12:117318741-117318757 chr12:117319105-117319116 chr12:117318708-117318724
24	ZNF263	chr12:117317673-117319155	HEK293-T-REx	kidney:	n/a	chr12:117318231-117318240
25	UBTF	chr12:117318607-117319237	K562	blood:	n/a	n/a
26	CREB1	chr12:117318718-117319134	A549	lung:	n/a	n/a
27	RAD21	chr12:117318711-117319044	Hela-S3	cervix:	n/a	chr12:117318731-117318744
28	POLR2A	chr12:117318679-117319191	Hela-S3	cervix:	n/a	n/a
29	SMC3	chr12:117318493-117319117	Hela-S3	cervix:	n/a	n/a
30	HDAC2	chr12:117318612-117319185	MCF-7	breast:	n/a	n/a
31	TCF7L2	chr12:117318616-117318933	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:117318704-117319286	HCT-116	colon:	n/a	n/a
33	CHD1	chr12:117318512-117318933	H1-hESC	embryonic stem cell:	n/a	n/a
34	HA-E2F1	chr12:117318497-117319186	MCF-7	breast:	n/a	chr12:117318703-117318715
35	RAD21	chr12:117318685-117319093	ECC-1	luminal epithelium:	n/a	chr12:117318731-117318744
36	KAP1	chr12:117318671-117319043	HEK293	kidney:	n/a	n/a
37	MAX	chr12:117318530-117319650	A549	lung:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
38	HA-E2F1	chr12:117318662-117319324	Hela-S3	cervix:	n/a	chr12:117319297-117319306 chr12:117318703-117318715 chr12:117319297-117319309
39	MAX	chr12:117318615-117319227	A549	lung:	n/a	n/a
40	RAD21	chr12:117318674-117319078	HepG2	liver:	n/a	chr12:117318731-117318744
41	HDAC2	chr12:117318716-117319271	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr12:117318591-117319409	H1-hESC	embryonic stem cell:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
43	E2F1	chr12:117318708-117319256	Hela-S3	cervix:	n/a	n/a
44	HCFC1	chr12:117318572-117319221	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr12:117318641-117319048	Hela-S3	cervix:	n/a	n/a
46	E2F6	chr12:117318675-117319144	A549	lung:	n/a	chr12:117318703-117318715
47	SUZ12	chr12:117317764-117318827	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:117318693-117319198	K562	blood:	n/a	n/a
49	GABPA	chr12:117318574-117319241	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr12:117318454-117319697	HCT-116	colon:	n/a	chr12:117319314-117319323 chr12:117319291-117319301

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

Variant related genes	Relation type
HRK	TF binding region
ENSG00000135119	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3341718	chr12:117318119-117320417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3357378	chr12:117318194-117320742	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:117316400-117318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:117316400-117318800	Enhancers	Gastric	stomach
9	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
11	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:117316600-117318800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:117316800-117318800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:117316800-117318800	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:117317000-117318800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:117317000-117319000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
21	chr12:117317200-117318800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr12:117317400-117319600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
24	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
25	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr12:117317600-117318800	Flanking Active TSS	Right Ventricle	heart
28	chr12:117317600-117318800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr12:117317600-117320200	Flanking Bivalent TSS/Enh	Thymus	Thymus
30	chr12:117317600-117320400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr12:117317800-117318800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
32	chr12:117317800-117318800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr12:117317800-117318800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr12:117317800-117320400	Bivalent Enhancer	Liver	Liver
35	chr12:117318000-117318800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr12:117318000-117319000	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr12:117318000-117319000	Bivalent/Poised TSS	HSMM	muscle
38	chr12:117318000-117319600	Active TSS	Aorta	Aorta
39	chr12:117318000-117319800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:117318200-117318800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117318200-117318800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr12:117318200-117318800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:117318200-117319000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr12:117318200-117319200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:117318200-117319200	Bivalent/Poised TSS	Left Ventricle	heart
46	chr12:117318200-117319200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr12:117318200-117319400	Active TSS	Brain Angular Gyrus	brain
48	chr12:117318200-117319600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:117318200-117319800	Bivalent Enhancer	HUVEC	blood vessel
50	chr12:117318200-117320000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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