Variant report

Variant	rs566895923
Chromosome Location	chr22:31364358-31364359
allele	G/T
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	chr22:31364105-31364813	H1-hESC	embryonic stem cell:	n/a	n/a
3	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
4	POLR2A	chr22:31364340-31366576	MCF10A-Er-Src	breast:	n/a	n/a
5	RUNX3	chr22:31364354-31365910	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
7	HEY1	chr22:31364332-31365119	K562	blood:	n/a	chr22:31364586-31364601 chr22:31365041-31365056
8	SIN3AK20	chr22:31364324-31365082	K562	blood:	n/a	n/a
9	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
10	SIN3AK20	chr22:31364354-31364642	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF7	chr22:31364206-31365708	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr22:31364309-31365651	ECC-1	luminal epithelium:	n/a	n/a
13	MXI1	chr22:31364353-31365787	Hela-S3	cervix:	n/a	chr22:31364727-31364736
14	KAP1	chr22:31364140-31365406	HEK293	kidney:	n/a	n/a
15	CREB1	chr22:31364335-31365592	HepG2	liver:	n/a	n/a
16	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
17	JUND	chr22:31364316-31365599	H1-hESC	embryonic stem cell:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
18	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
19	HEY1	chr22:31364342-31364833	HepG2	liver:	n/a	chr22:31364586-31364601
20	ZMIZ1	chr22:31364285-31364812	K562	blood:	n/a	n/a
21	WRNIP1	chr22:31364300-31364448	GM12878	blood:	n/a	n/a
22	JUND	chr22:31364322-31365994	K562	blood:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
23	MYC	chr22:31364242-31365606	H1-hESC	embryonic stem cell:	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
24	NFIC	chr22:31364293-31365670	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr22:31364267-31365401	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr22:31364343-31365581	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
27	REST	chr22:31364096-31366575	H1-neurons	neurons:	n/a	chr22:31364573-31364586 chr22:31364189-31364203 chr22:31364571-31364581
28	POLR2A	chr22:31364038-31366208	HUVEC	blood vessel:	n/a	n/a
29	CEBPB	chr22:31364243-31364774	MCF-7	breast:	n/a	n/a
30	USF1	chr22:31364283-31365559	SK-N-SH	brain:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
31	CHD1	chr22:31364123-31364743	H1-hESC	embryonic stem cell:	n/a	chr22:31364590-31364600
32	MAX	chr22:31364238-31366006	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
33	POLR2A	chr22:31364332-31365860	K562	blood:	n/a	n/a
34	POLR2A	chr22:31364318-31364826	Hela-S3	cervix:	n/a	n/a
35	CEBPZ	chr22:31364211-31364433	HepG2	liver:	n/a	n/a
36	TBP	chr22:31364302-31365945	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr22:31364160-31366004	ECC-1	luminal epithelium:	n/a	n/a
38	CHD2	chr22:31364241-31366019	GM12878	blood:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
39	POLR2A	chr22:31362793-31365454	K562	blood:	n/a	n/a
40	SP1	chr22:31364284-31364798	H1-hESC	embryonic stem cell:	n/a	chr22:31364592-31364601 chr22:31364591-31364605 chr22:31364590-31364602 chr22:31364591-31364601 chr22:31364591-31364600 chr22:31364590-31364602 chr22:31364591-31364601 chr22:31364561-31364571 chr22:31364591-31364600
41	RCOR1	chr22:31364346-31365958	K562	blood:	n/a	n/a
42	ATF2	chr22:31364165-31364719	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr22:31364213-31365501	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
44	CHD2	chr22:31363919-31365484	H1-hESC	embryonic stem cell:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
45	MAX	chr22:31364177-31365521	H1-hESC	embryonic stem cell:	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
46	USF1	chr22:31364212-31365651	ECC-1	luminal epithelium:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
47	TAF1	chr22:31364341-31364778	K562	blood:	n/a	n/a
48	YY1	chr22:31364193-31364483	K562	blood:	n/a	n/a
49	MAX	chr22:31364206-31366133	HCT-116	colon:	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
50	POLR2A	chr22:31364183-31365807	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31364356-31364406	Hela-S3	cervix:	n/a
2	chr22:31364349-31364399	HCM	heart:	n/a
3	chr22:31364349-31364399	GM12878	blood:	n/a
4	chr22:31364356-31364406	RPTEC	kidney:	n/a
5	chr22:31364356-31364406	Jurkat	blood:	n/a
6	chr22:31364349-31364399	HRPEpiC	eye:	n/a
7	chr22:31364356-31364406	IMR90	lung:	fetal
8	chr22:31364356-31364406	A549	lung:	n/a
9	chr22:31364349-31364399	HAEpiC	amniotic membrane:	n/a
10	chr22:31364356-31364406	GM12892	blood:	n/a
11	chr22:31364349-31364399	HEEpiC	esophagus:	n/a
12	chr22:31364349-31364399	GM19239	blood:	n/a
13	chr22:31364349-31364399	GM06990	blood:	n/a
14	chr22:31364356-31364406	Caco-2	colon:	n/a
15	chr22:31364349-31364399	HL-60	blood:	n/a
16	chr22:31364349-31364399	NB4	blood:	n/a
17	chr22:31364349-31364399	K562	blood:	n/a
18	chr22:31364349-31364399	HIPEpiC	eye:	n/a
19	chr22:31364349-31364399	CMK	blood:	n/a
20	chr22:31364349-31364399	T-47D	breast:	n/a
21	chr22:31364349-31364399	RPTEC	kidney:	n/a
22	chr22:31364356-31364406	GM06990	blood:	n/a
23	chr22:31364356-31364406	BJ	skin:	n/a
24	chr22:31364349-31364399	HUVEC	blood vessel:	n/a
25	chr22:31364349-31364399	HCF	heart:	n/a
26	chr22:31364349-31364399	ovcar-3	ovarian:	n/a
27	chr22:31364349-31364399	A549	lung:	n/a
28	chr22:31364349-31364399	AG04449	skin:	fetal
29	chr22:31364356-31364406	NHBE	bronchial:	n/a
30	chr22:31364356-31364406	SAEC	small airway:	n/a
31	chr22:31364349-31364399	HPAEpiC	pulmonary alveolar:	n/a
32	chr22:31364349-31364399	GM12891	blood:	n/a
33	chr22:31364349-31364399	Hela-S3	cervix:	n/a
34	chr22:31364356-31364406	PANC-1	pancreas:	n/a
35	chr22:31364356-31364406	MCF10A-Er-Src	breast:	n/a
36	chr22:31364356-31364406	SK-N-SH_RA	brain:	n/a
37	chr22:31364349-31364399	SK-N-SH	brain:	n/a
38	chr22:31364349-31364399	SK-N-MC	brain:	n/a
39	chr22:31364356-31364406	HCT-116	colon:	n/a
40	chr22:31364349-31364399	NHDF-neo	bronchial:	n/a
41	chr22:31364356-31364406	HMEC	breast:	n/a
42	chr22:31364356-31364406	Hepatocyte	liver:	n/a
43	chr22:31364349-31364399	H1-hESC	embryonic stem cell:	embryo
44	chr22:31364349-31364399	AG04450	lung:	fetal
45	chr22:31364356-31364406	GM12891	blood:	n/a
46	chr22:31364349-31364399	SAEC	small airway:	n/a
47	chr22:31364356-31364406	PFSK-1	brain:	n/a
48	chr22:31364356-31364406	AG10803	skin:	n/a
49	chr22:31364356-31364406	PrEC	prostate:	n/a
50	chr22:31364356-31364406	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
2	chr22:31364295..31366215-chr22:31500800..31503274,2	K562	blood:
3	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
4	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
5	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
6	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
7	chr22:31364265..31366657-chr3:63848755..63850667,2	MCF-7	breast:
8	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
9	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
10	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
11	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

Variant related genes	Relation type
MORC2	TF binding region
TUG1	TF binding region
MORC2	CpG island
TUG1	CpG island
ENSG00000184708	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000240186	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000163634	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
3	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
4	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:31351000-31364400	Weak transcription	Ovary	ovary
6	chr22:31357600-31364600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31360600-31364400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr22:31362400-31365200	Flanking Active TSS	Dnd41	blood
9	chr22:31362600-31364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr22:31362800-31364400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr22:31362800-31364400	Weak transcription	Lung	lung
12	chr22:31363000-31364400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:31363000-31364400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr22:31363000-31364400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
15	chr22:31363000-31364400	ZNF genes & repeats	A549	lung
16	chr22:31363000-31364600	ZNF genes & repeats	Fetal Lung	lung
17	chr22:31363000-31366200	Active TSS	K562	blood
18	chr22:31363000-31366600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr22:31363000-31367200	Active TSS	Psoas Muscle	Psoas
20	chr22:31363200-31364400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:31363200-31364600	Flanking Active TSS	HepG2	liver
22	chr22:31363200-31366200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:31363200-31366600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:31363400-31364400	ZNF genes & repeats	NHEK	skin
25	chr22:31363600-31364400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:31363600-31364400	Enhancers	Spleen	Spleen
27	chr22:31363600-31364600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:31363600-31364600	Flanking Active TSS	Fetal Heart	heart
29	chr22:31363600-31364800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:31363600-31364800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:31363600-31366000	Active TSS	Brain Hippocampus Middle	brain
32	chr22:31363600-31366200	Active TSS	Right Atrium	heart
33	chr22:31363600-31366400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr22:31363800-31364400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
35	chr22:31363800-31364400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
36	chr22:31363800-31364600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:31363800-31364600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr22:31363800-31364600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr22:31363800-31364600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr22:31363800-31364600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr22:31363800-31364600	Flanking Active TSS	HUVEC	blood vessel
42	chr22:31363800-31364800	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr22:31363800-31365200	Active TSS	Brain Germinal Matrix	brain
44	chr22:31363800-31366000	Active TSS	NH-A	brain
45	chr22:31363800-31366000	Active TSS	Osteobl	bone
46	chr22:31363800-31366200	Active TSS	Right Ventricle	heart
47	chr22:31363800-31366600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31363800-31366800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr22:31364000-31364400	Enhancers	Primary B cells from peripheral blood	blood
50	chr22:31364000-31364400	Active TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links