Variant report

Variant	rs540830288
Chromosome Location	chr22:31364860-31364861
allele	-/CGCCGCCCGCG
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	MYC	chr22:31364307-31365977	K562	blood:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
2	POLR2A	chr22:31364437-31365665	PANC-1	pancreas:	n/a	n/a
3	MYBL2	chr22:31364453-31365442	HepG2	liver:	n/a	n/a
4	TAF1	chr22:31364726-31365578	H1-neurons	neurons:	n/a	n/a
5	PML	chr22:31364860-31365071	GM12878	blood:	n/a	n/a
6	MAX	chr22:31364171-31365949	ECC-1	luminal epithelium:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
7	POLR2A	chr22:31364566-31366024	Raji	blood:	n/a	n/a
8	POLR2A	chr22:31364340-31366576	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr22:31364467-31365598	HepG2	liver:	n/a	n/a
10	RUNX3	chr22:31364354-31365910	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
12	EGR1	chr22:31364847-31365546	MCF-7	breast:	n/a	chr22:31365086-31365099 chr22:31365086-31365099 chr22:31365235-31365248 chr22:31365086-31365099 chr22:31365085-31365099 chr22:31365081-31365103 chr22:31365086-31365099 chr22:31365085-31365100 chr22:31365087-31365096 chr22:31365346-31365356 chr22:31365086-31365096 chr22:31365001-31365011
13	HEY1	chr22:31364332-31365119	K562	blood:	n/a	chr22:31364586-31364601 chr22:31365041-31365056
14	MAX	chr22:31364481-31365652	HUVEC	blood vessel:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
15	POLR2A	chr22:31364531-31365840	HEK293	kidney:	n/a	n/a
16	SIN3AK20	chr22:31364324-31365082	K562	blood:	n/a	n/a
17	MYC	chr22:31364236-31365640	K562	blood:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
18	POLR2A	chr22:31364506-31365587	A549	lung:	n/a	n/a
19	POLR2A	chr22:31364379-31366852	GM12892	blood:	n/a	n/a
20	TAF7	chr22:31364206-31365708	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31364558-31365548	HepG2	liver:	n/a	n/a
22	TCF12	chr22:31364309-31365651	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr22:31364353-31365787	Hela-S3	cervix:	n/a	chr22:31364727-31364736
24	ZBTB7A	chr22:31364821-31365123	K562	blood:	n/a	n/a
25	MAX	chr22:31364436-31365669	A549	lung:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
26	USF1	chr22:31364833-31365481	A549	lung:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
27	MYC	chr22:31364509-31365328	MCF-7	breast:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
28	NFYA	chr22:31364678-31365330	Hela-S3	cervix:	n/a	chr22:31365110-31365125 chr22:31365058-31365071 chr22:31365110-31365125 chr22:31365106-31365124 chr22:31365113-31365123 chr22:31365111-31365125 chr22:31365058-31365072 chr22:31365058-31365073 chr22:31365060-31365070 chr22:31365058-31365073 chr22:31365057-31365069
29	KAP1	chr22:31364140-31365406	HEK293	kidney:	n/a	n/a
30	MTA3	chr22:31364696-31365478	GM12878	blood:	n/a	n/a
31	POU2F2	chr22:31364825-31365618	GM12891	blood:	n/a	chr22:31365349-31365361
32	CREB1	chr22:31364335-31365592	HepG2	liver:	n/a	n/a
33	POLR2A	chr22:31364497-31365885	HepG2	liver:	n/a	n/a
34	MYC	chr22:31364384-31365586	MCF10A-Er-Src	breast:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
35	CREB1	chr22:31364715-31365951	GM12878	blood:	n/a	n/a
36	TAF1	chr22:31364464-31365422	HepG2	liver:	n/a	n/a
37	MAX	chr22:31364068-31366020	HepG2	liver:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
38	JUND	chr22:31364316-31365599	H1-hESC	embryonic stem cell:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
39	POLR2A	chr22:31364778-31365666	GM12891	blood:	n/a	n/a
40	USF2	chr22:31364215-31365389	H1-hESC	embryonic stem cell:	n/a	chr22:31365171-31365180 chr22:31365133-31365144 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365170-31365181 chr22:31365172-31365181
41	POLR2A	chr22:31364831-31365638	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr22:31364449-31365597	GM12878	blood:	n/a	chr22:31365028-31365046
43	USF1	chr22:31364554-31365650	HCT-116	colon:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
44	MAX	chr22:31364429-31365564	Hela-S3	cervix:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
45	USF1	chr22:31364496-31364880	SK-N-SH_RA	brain:	n/a	n/a
46	MYC	chr22:31364606-31365200	MCF-7	breast:	n/a	chr22:31365170-31365183 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31365090-31365100 chr22:31365172-31365181
47	POLR2A	chr22:31364363-31366848	IMR90	lung:	n/a	n/a
48	POLR2A	chr22:31364511-31365614	Gliobla	brain:	n/a	n/a
49	E2F6	chr22:31364667-31365033	K562	blood:	n/a	chr22:31364771-31364786
50	E2F4	chr22:31364550-31365645	K562	blood:	n/a	chr22:31365060-31365069 chr22:31365082-31365094 chr22:31364771-31364786 chr22:31365240-31365249 chr22:31365114-31365123 chr22:31364592-31364601

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31364830-31364880	GM06990	blood:	n/a
2	chr22:31364830-31364880	ProgFib	skin:	n/a
3	chr22:31364830-31364880	AG09309	skin:	n/a
4	chr22:31364830-31364880	NH-A	brain:	n/a
5	chr22:31364830-31364880	HCF	heart:	n/a
6	chr22:31364830-31364880	HEK293	kidney:	embryo
7	chr22:31364830-31364880	GM12891	blood:	n/a
8	chr22:31364830-31364880	AG04450	lung:	fetal
9	chr22:31364830-31364880	IMR90	lung:	fetal
10	chr22:31364830-31364880	Hela-S3	cervix:	n/a
11	chr22:31364830-31364880	NHBE	bronchial:	n/a
12	chr22:31364830-31364880	K562	blood:	n/a
13	chr22:31364830-31364880	HAEpiC	amniotic membrane:	n/a
14	chr22:31364830-31364880	SK-N-SH	brain:	n/a
15	chr22:31364830-31364880	RPTEC	kidney:	n/a
16	chr22:31364830-31364880	NHDF-neo	bronchial:	n/a
17	chr22:31364830-31364880	AoSMC	blood vessel:	n/a
18	chr22:31364830-31364880	A549	lung:	n/a
19	chr22:31364830-31364880	AG04449	skin:	fetal
20	chr22:31364830-31364880	GM12892	blood:	n/a
21	chr22:31364830-31364880	HUVEC	blood vessel:	n/a
22	chr22:31364830-31364880	MCF10A-Er-Src	breast:	n/a
23	chr22:31364830-31364880	HPAEpiC	pulmonary alveolar:	n/a
24	chr22:31364830-31364880	T-47D	breast:	n/a
25	chr22:31364830-31364880	GM12878	blood:	n/a
26	chr22:31364830-31364880	BE2_C	brain:	n/a
27	chr22:31364830-31364880	PrEC	prostate:	n/a
28	chr22:31364830-31364880	ECC-1	luminal epithelium:	n/a
29	chr22:31364830-31364880	HCPEpiC	choroid plexus:	n/a
30	chr22:31364830-31364880	AG09319	gingival:	n/a
31	chr22:31364830-31364880	HepG2	liver:	n/a
32	chr22:31364830-31364880	SAEC	small airway:	n/a
33	chr22:31364830-31364880	PANC-1	pancreas:	n/a
34	chr22:31364830-31364880	HCM	heart:	n/a
35	chr22:31364830-31364880	HNPCEpiC	eye:	n/a
36	chr22:31364830-31364880	HRCEpiC	kidney:	n/a
37	chr22:31364830-31364880	H1-hESC	embryonic stem cell:	embryo
38	chr22:31364830-31364880	ovcar-3	ovarian:	n/a
39	chr22:31364830-31364880	LNCaP	prostate:	n/a
40	chr22:31364830-31364880	PFSK-1	brain:	n/a
41	chr22:31364830-31364880	NT2-D1	testis:	n/a
42	chr22:31364830-31364880	GM19239	blood:	n/a
43	chr22:31364830-31364880	Jurkat	blood:	n/a
44	chr22:31364830-31364880	BJ	skin:	n/a
45	chr22:31364830-31364880	SKMC	muscle:	n/a
46	chr22:31364830-31364880	AG10803	skin:	n/a
47	chr22:31364830-31364880	HL-60	blood:	n/a
48	chr22:31364830-31364880	HEEpiC	esophagus:	n/a
49	chr22:31364830-31364880	U87	brain:	n/a
50	chr22:31364830-31364880	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149858027..149858541-chr22:31364829..31365374,2	Hela-S3	cervix:
2	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
3	chr22:31364295..31366215-chr22:31500800..31503274,2	K562	blood:
4	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
5	chr22:31364563..31366605-chr22:31487130..31490590,3	MCF-7	breast:
6	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
7	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
8	chr22:31352151..31354535-chr22:31364761..31366317,2	K562	blood:
9	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
10	chr22:31364265..31366657-chr3:63848755..63850667,2	MCF-7	breast:
11	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
12	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
13	chr22:31364481..31367281-chr22:31457492..31460562,3	MCF-7	breast:
14	chr22:31364730..31366570-chr22:31554065..31556139,2	MCF-7	breast:
15	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

Variant related genes	Relation type
TUG1	TF binding region
MORC2	TF binding region
TUG1	CpG island
MORC2	CpG island
ENSG00000163634	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000240186	Chromatin interaction
ENSG00000264141	Chromatin interaction
ENSG00000198832	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394890	chr22:31363902-31366800	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31362400-31365200	Flanking Active TSS	Dnd41	blood
2	chr22:31363000-31366200	Active TSS	K562	blood
3	chr22:31363000-31366600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:31363000-31367200	Active TSS	Psoas Muscle	Psoas
5	chr22:31363200-31366200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:31363200-31366600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:31363600-31366000	Active TSS	Brain Hippocampus Middle	brain
8	chr22:31363600-31366200	Active TSS	Right Atrium	heart
9	chr22:31363600-31366400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr22:31363800-31365200	Active TSS	Brain Germinal Matrix	brain
11	chr22:31363800-31366000	Active TSS	NH-A	brain
12	chr22:31363800-31366000	Active TSS	Osteobl	bone
13	chr22:31363800-31366200	Active TSS	Right Ventricle	heart
14	chr22:31363800-31366600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31363800-31366800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr22:31364000-31366000	Active TSS	HSMMtube	muscle
17	chr22:31364000-31366200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr22:31364000-31366400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr22:31364000-31366400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr22:31364000-31366400	Active TSS	Fetal Kidney	kidney
21	chr22:31364000-31366400	Active TSS	NHLF	lung
22	chr22:31364000-31366600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr22:31364000-31366600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr22:31364000-31366600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31364200-31365000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr22:31364200-31365000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:31364200-31365000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:31364200-31365000	Flanking Active TSS	HMEC	breast
29	chr22:31364200-31365800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:31364200-31366000	Active TSS	Rectal Smooth Muscle	rectum
31	chr22:31364200-31366000	Active TSS	Thymus	Thymus
32	chr22:31364200-31366200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:31364200-31366200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr22:31364200-31366400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr22:31364200-31366600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr22:31364400-31366000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:31364400-31366000	Active TSS	Brain Substantia Nigra	brain
38	chr22:31364400-31366000	Active TSS	Fetal Brain Female	brain
39	chr22:31364400-31366000	Active TSS	Small Intestine	intestine
40	chr22:31364400-31366200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:31364400-31366200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr22:31364400-31366200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr22:31364400-31366200	Active TSS	Hela-S3	cervix
44	chr22:31364400-31366200	Active TSS	NHDF-Ad	bronchial
45	chr22:31364400-31366400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:31364400-31366400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:31364400-31366400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31364400-31366400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:31364400-31366400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:31364400-31366400	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links