Variant report

Variant	rs200067255
Chromosome Location	chr22:30685688-30685689
allele	A/G
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	POLR2A	chr22:30685164-30685987	K562	blood:	n/a	n/a
2	ZBTB7A	chr22:30684655-30685733	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr22:30685314-30686056	HCT-116	colon:	n/a	n/a
4	ZNF143	chr22:30685486-30685751	H1-hESC	embryonic stem cell:	n/a	chr22:30685660-30685678 chr22:30685537-30685555
5	NFATC1	chr22:30685373-30686098	GM12878	blood:	n/a	chr22:30685853-30685866
6	PML	chr22:30685241-30686822	GM12878	blood:	n/a	chr22:30685671-30685679
7	NFIC	chr22:30685196-30685846	ECC-1	luminal epithelium:	n/a	n/a
8	PAX5	chr22:30685274-30685920	GM12878	blood:	n/a	chr22:30685689-30685698
9	POLR2A	chr22:30685296-30685725	IMR90	lung:	n/a	n/a
10	YY1	chr22:30685389-30685772	GM12878	blood:	n/a	chr22:30685545-30685554 chr22:30685543-30685554 chr22:30685546-30685557 chr22:30685581-30685592
11	SP1	chr22:30685359-30685991	HepG2	liver:	n/a	chr22:30685790-30685802 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685537-30685546 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685536-30685548 chr22:30685834-30685847 chr22:30685536-30685548 chr22:30685817-30685826 chr22:30685538-30685547 chr22:30685816-30685825 chr22:30685816-30685825 chr22:30685655-30685665 chr22:30685844-30685856
12	MXI1	chr22:30685498-30685751	Hela-S3	cervix:	n/a	n/a
13	USF1	chr22:30685496-30686044	SK-N-SH_RA	brain:	n/a	chr22:30685621-30685637
14	MAX	chr22:30685232-30686081	ECC-1	luminal epithelium:	n/a	chr22:30685833-30685843
15	RCOR1	chr22:30685384-30685715	HepG2	liver:	n/a	n/a
16	MAFK	chr22:30685646-30685767	Hela-S3	cervix:	n/a	n/a
17	IRF1	chr22:30685361-30686018	K562	blood:	n/a	chr22:30685652-30685666 chr22:30685842-30685856 chr22:30685667-30685676 chr22:30685686-30685700 chr22:30685536-30685550 chr22:30685813-30685827
18	NFYB	chr22:30685503-30685769	K562	blood:	n/a	n/a
19	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
20	STAT1	chr22:30685438-30686026	GM12878	blood:	n/a	n/a
21	SP1	chr22:30685284-30686039	A549	lung:	n/a	chr22:30685790-30685802 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685537-30685546 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685536-30685548 chr22:30685834-30685847 chr22:30685536-30685548 chr22:30685817-30685826 chr22:30685538-30685547 chr22:30685816-30685825 chr22:30685816-30685825 chr22:30685655-30685665 chr22:30685844-30685856
22	FOS	chr22:30685535-30685753	MCF10A-Er-Src	breast:	n/a	chr22:30685536-30685545 chr22:30685541-30685550
23	POLR2A	chr22:30685039-30685771	HepG2	liver:	n/a	n/a
24	SP4	chr22:30685407-30685949	H1-hESC	embryonic stem cell:	n/a	chr22:30685813-30685829
25	POLR2A	chr22:30685301-30685721	SK-N-SH	brain:	n/a	n/a
26	STAT3	chr22:30685523-30685765	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr22:30685366-30688017	GM12892	blood:	n/a	n/a
28	RUNX3	chr22:30685267-30685885	GM12878	blood:	n/a	n/a
29	MAX	chr22:30685224-30686161	A549	lung:	n/a	chr22:30685833-30685843
30	JUND	chr22:30685523-30685786	K562	blood:	n/a	chr22:30685536-30685545 chr22:30685541-30685550
31	MAX	chr22:30685344-30686044	K562	blood:	n/a	chr22:30685833-30685843
32	POLR2A	chr22:30685244-30685932	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr22:30685222-30685898	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr22:30685344-30687144	GM12878	blood:	n/a	n/a
35	CTCF	chr22:30685570-30686115	GM12878	blood:	n/a	chr22:30686088-30686101
36	BHLHE40	chr22:30685448-30685938	GM12878	blood:	n/a	chr22:30685621-30685637
37	HMGN3	chr22:30684909-30686005	K562	blood:	n/a	n/a
38	POLR2A	chr22:30685268-30686959	GM18951	blood:	n/a	n/a
39	CCNT2	chr22:30685318-30685922	K562	blood:	n/a	chr22:30685817-30685826
40	MXI1	chr22:30685499-30685760	K562	blood:	n/a	n/a
41	POLR2A	chr22:30685401-30685769	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr22:30685211-30685961	HUVEC	blood vessel:	n/a	n/a
43	TCF7L2	chr22:30685379-30685783	PANC-1	pancreas:	n/a	n/a
44	MYC	chr22:30685524-30685717	K562	blood:	n/a	n/a
45	YY1	chr22:30685086-30686214	HepG2	liver:	n/a	chr22:30685545-30685554 chr22:30685252-30685263 chr22:30685543-30685554 chr22:30686095-30686106 chr22:30685546-30685557 chr22:30685581-30685592 chr22:30685219-30685238
46	SP1	chr22:30685425-30685869	A549	lung:	n/a	chr22:30685790-30685802 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685537-30685546 chr22:30685815-30685827 chr22:30685816-30685826 chr22:30685536-30685548 chr22:30685834-30685847 chr22:30685536-30685548 chr22:30685817-30685826 chr22:30685538-30685547 chr22:30685816-30685825 chr22:30685816-30685825 chr22:30685655-30685665 chr22:30685844-30685856
47	ZNF263	chr22:30685054-30685707	HEK293-T-REx	kidney:	n/a	n/a
48	NFATC1	chr22:30685265-30686335	GM12878	blood:	n/a	chr22:30685853-30685866
49	MAZ	chr22:30685432-30686121	HepG2	liver:	n/a	chr22:30685833-30685843
50	POLR2A	chr22:30685098-30686646	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30685666-30685716	BE2_C	brain:	n/a
2	chr22:30685664-30685714	AoSMC	blood vessel:	n/a
3	chr22:30685666-30685716	A549	lung:	n/a
4	chr22:30685666-30685716	NT2-D1	testis:	n/a
5	chr22:30685666-30685716	HRE	kidney:	n/a
6	chr22:30685666-30685716	NH-A	brain:	n/a
7	chr22:30685664-30685714	SK-N-SH_RA	brain:	n/a
8	chr22:30685666-30685716	LNCaP	prostate:	n/a
9	chr22:30685666-30685716	NB4	blood:	n/a
10	chr22:30685664-30685714	HL-60	blood:	n/a
11	chr22:30685666-30685716	PrEC	prostate:	n/a
12	chr22:30685664-30685714	SK-N-SH	brain:	n/a
13	chr22:30685666-30685716	HAEpiC	amniotic membrane:	n/a
14	chr22:30685664-30685714	HCPEpiC	choroid plexus:	n/a
15	chr22:30685666-30685716	AG10803	skin:	n/a
16	chr22:30685664-30685714	ECC-1	luminal epithelium:	n/a
17	chr22:30685664-30685714	HMEC	breast:	n/a
18	chr22:30685664-30685714	HUVEC	blood vessel:	n/a
19	chr22:30685664-30685714	Jurkat	blood:	n/a
20	chr22:30685664-30685714	HRCEpiC	kidney:	n/a
21	chr22:30685666-30685716	PANC-1	pancreas:	n/a
22	chr22:30685664-30685714	HEEpiC	esophagus:	n/a
23	chr22:30685664-30685714	Hepatocyte	liver:	n/a
24	chr22:30685666-30685716	MCF-7	breast:	n/a
25	chr22:30685664-30685714	ProgFib	skin:	n/a
26	chr22:30685666-30685716	ovcar-3	ovarian:	n/a
27	chr22:30685666-30685716	SKMC	muscle:	n/a
28	chr22:30685666-30685716	RPTEC	kidney:	n/a
29	chr22:30685664-30685714	AG04450	lung:	fetal
30	chr22:30685664-30685714	AG04449	skin:	fetal
31	chr22:30685664-30685714	HAEpiC	amniotic membrane:	n/a
32	chr22:30685664-30685714	HRPEpiC	eye:	n/a
33	chr22:30685666-30685716	CMK	blood:	n/a
34	chr22:30685664-30685714	SAEC	small airway:	n/a
35	chr22:30685664-30685714	MCF-7	breast:	n/a
36	chr22:30685666-30685716	Hela-S3	cervix:	n/a
37	chr22:30685664-30685714	BE2_C	brain:	n/a
38	chr22:30685666-30685716	GM12878	blood:	n/a
39	chr22:30685666-30685716	Caco-2	colon:	n/a
40	chr22:30685666-30685716	Hepatocyte	liver:	n/a
41	chr22:30685666-30685716	U87	brain:	n/a
42	chr22:30685664-30685714	GM19239	blood:	n/a
43	chr22:30685664-30685714	NHBE	bronchial:	n/a
44	chr22:30685664-30685714	AG10803	skin:	n/a
45	chr22:30685666-30685716	ECC-1	luminal epithelium:	n/a
46	chr22:30685666-30685716	HIPEpiC	eye:	n/a
47	chr22:30685664-30685714	GM12891	blood:	n/a
48	chr22:30685664-30685714	HPAEpiC	pulmonary alveolar:	n/a
49	chr22:30685664-30685714	PrEC	prostate:	n/a
50	chr22:30685666-30685716	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
2	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
3	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
4	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
5	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
6	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
7	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
8	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
9	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
10	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
11	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
12	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
13	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
14	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:

Variant related genes	Relation type
GATSL3	TF binding region
GATSL3	CpG island
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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 target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30683600-30686800	Flanking Active TSS	Dnd41	blood
2	chr22:30683800-30686000	Active TSS	Fetal Kidney	kidney
3	chr22:30684000-30686000	Active TSS	Brain Anterior Caudate	brain
4	chr22:30684000-30686400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:30684000-30686600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr22:30684200-30685800	Active TSS	HSMMtube	muscle
7	chr22:30684200-30686000	Active TSS	Right Atrium	heart
8	chr22:30684200-30686200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:30684200-30686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr22:30684200-30686200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr22:30684200-30686200	Active TSS	Brain Angular Gyrus	brain
12	chr22:30684200-30686200	Enhancers	Fetal Brain Male	brain
13	chr22:30684200-30686200	Active TSS	Ovary	ovary
14	chr22:30684400-30686000	Active TSS	Brain Substantia Nigra	brain
15	chr22:30684400-30686000	Active TSS	Left Ventricle	heart
16	chr22:30684400-30686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30684400-30686200	Active TSS	Aorta	Aorta
18	chr22:30684400-30686200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr22:30684600-30685800	Active TSS	Fetal Lung	lung
20	chr22:30684600-30686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:30684600-30686000	Active TSS	A549	lung
22	chr22:30684600-30686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr22:30684600-30686200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr22:30684600-30686200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30684600-30686200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr22:30684600-30686200	Active TSS	Small Intestine	intestine
27	chr22:30684600-30686400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr22:30684800-30685800	Active TSS	HSMM	muscle
29	chr22:30684800-30685800	Active TSS	NHDF-Ad	bronchial
30	chr22:30684800-30686000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:30684800-30686000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:30684800-30686000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30684800-30686000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:30684800-30686000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:30684800-30686000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:30684800-30686000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:30684800-30686000	Active TSS	Colon Smooth Muscle	Colon
38	chr22:30684800-30686000	Active TSS	Esophagus	oesophagus
39	chr22:30684800-30686000	Active TSS	Rectal Smooth Muscle	rectum
40	chr22:30684800-30686000	Active TSS	NHLF	lung
41	chr22:30684800-30686200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:30684800-30686200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr22:30684800-30686200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:30684800-30686200	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr22:30684800-30686400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:30685000-30685800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:30685000-30685800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr22:30685000-30685800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:30685000-30685800	Active TSS	Fetal Intestine Large	intestine
50	chr22:30685000-30686000	Active TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links