Variant report

Variant	rs529992858
Chromosome Location	chr22:32774880-32774881
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	CTCF	chr22:32774773-32774889	GM10248	blood:	n/a	n/a
2	CTCF	chr22:32774780-32774930	GM12870	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
3	CTCFL	chr22:32774699-32774925	K562	blood:	n/a	n/a
4	CTCF	chr22:32774708-32775005	Hela-S3	cervix:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
5	MAX	chr22:32774709-32775006	K562	blood:	n/a	n/a
6	CTCF	chr22:32774741-32774944	LNCaP	prostate:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
7	CTCF	chr22:32774760-32774910	HL-60	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
8	CTCF	chr22:32774760-32774910	GM12869	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
9	TBL1XR1	chr22:32774748-32774991	K562	blood:	n/a	n/a
10	CTCF	chr22:32774760-32774910	HRPEpiC	eye:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
11	CTCF	chr22:32774559-32775047	H1-hESC	embryonic stem cell:	n/a	chr22:32774880-32774898 chr22:32774615-32774628 chr22:32774883-32774896
12	CTCF	chr22:32774780-32774930	HBMEC	blood vessel:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
13	MYC	chr22:32774735-32775000	K562	blood:	n/a	n/a
14	ZNF143	chr22:32774656-32775061	K562	blood:	n/a	n/a
15	CTCF	chr22:32774800-32774950	HCPEpiC	choroid plexus:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
16	YY1	chr22:32774653-32775137	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr22:32774537-32775060	HepG2	liver:	n/a	chr22:32774880-32774898 chr22:32774615-32774628 chr22:32774883-32774896
18	CTCF	chr22:32774800-32774950	HBMEC	blood vessel:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
19	CTCF	chr22:32774578-32775091	K562	blood:	n/a	chr22:32774880-32774898 chr22:32774615-32774628 chr22:32774883-32774896
20	CTCF	chr22:32774760-32774910	HCT-116	colon:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
21	CTCF	chr22:32774800-32774950	HCFaa	heart:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
22	RAD21	chr22:32774738-32774961	GM12878	blood:	n/a	chr22:32774881-32774900 chr22:32774882-32774896
23	CTCF	chr22:32774820-32774970	BJ	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
24	ELF1	chr22:32774657-32774976	K562	blood:	n/a	n/a
25	CTCF	chr22:32774800-32774950	HEK293	kidney:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
26	RAD21	chr22:32774552-32775089	ECC-1	luminal epithelium:	n/a	chr22:32774881-32774900 chr22:32774882-32774896
27	CTCFL	chr22:32774751-32774967	K562	blood:	n/a	n/a
28	CTCF	chr22:32774840-32774990	GM12864	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
29	CTCF	chr22:32774780-32774930	HEEpiC	esophagus:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
30	CTCF	chr22:32774800-32774950	WI-38	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
31	CTCF	chr22:32774760-32774910	WI-38	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
32	CTCF	chr22:32774703-32775020	Medullo	brain:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
33	RAD21	chr22:32774636-32775081	HepG2	liver:	n/a	chr22:32774881-32774900 chr22:32774882-32774896
34	RAD21	chr22:32774620-32775091	H1-hESC	embryonic stem cell:	n/a	chr22:32774881-32774900 chr22:32774882-32774896
35	CTCF	chr22:32774468-32775279	MCF-7	breast:	n/a	chr22:32774880-32774898 chr22:32775157-32775170 chr22:32774615-32774628 chr22:32774883-32774896
36	CTCF	chr22:32774780-32774930	HAc	cerebellar:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
37	HDAC2	chr22:32774639-32775037	H1-hESC	embryonic stem cell:	n/a	n/a
38	UBTF	chr22:32774739-32775020	K562	blood:	n/a	n/a
39	CTCF	chr22:32774650-32774974	ECC-1	luminal epithelium:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
40	CTCF	chr22:32774780-32774930	GM12868	blood:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
41	CTCF	chr22:32774700-32775037	A549	lung:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
42	CTCF	chr22:32774590-32775063	T-47D	breast:	n/a	chr22:32774880-32774898 chr22:32774615-32774628 chr22:32774883-32774896
43	CTCF	chr22:32774728-32774973	SK-N-SH_RA	brain:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
44	CTCF	chr22:32774780-32774930	HMF	breast:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
45	CTCF	chr22:32774800-32774950	HPAF	blood vessel:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
46	CTCF	chr22:32774770-32774888	GM20000	blood:	n/a	n/a
47	CTCF	chr22:32774780-32774930	HPAF	blood vessel:	n/a	chr22:32774880-32774898 chr22:32774883-32774896
48	HCFC1	chr22:32774690-32774905	K562	blood:	n/a	n/a
49	YY1	chr22:32774647-32775058	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr22:32774780-32774930	AG09309	skin:	n/a	chr22:32774880-32774898 chr22:32774883-32774896

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	chr22:32774461..32775315-chr22:33599131..33599713,2	MCF-7	breast:
3	22:31936958-31958600..22:32764253-32784733	K562	blood:
4	chr22:32774466..32775412-chr22:32914589..32915237,2	K562	blood:
5	chr22:32774801..32777723-chr22:32782145..32784494,2	MCF-7	breast:
6	chr22:32774444..32775309-chr22:32839813..32840801,8	MCF-7	breast:
7	chr22:32366399..32367270-chr22:32774385..32775272,2	MCF-7	breast:
8	chr22:32636741..32637412-chr22:32774275..32774958,2	MCF-7	breast:
9	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
10	chr22:32774655..32775289-chr22:32840154..32841027,2	MCF-7	breast:
11	chr22:32598513..32599181-chr22:32774588..32775254,2	MCF-7	breast:
12	chr22:32598041..32599019-chr22:32774399..32775272,3	MCF-7	breast:
13	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
14	22:32360288-32405313..22:32764253-32784733	K562	blood:
15	chr22:32774484..32775191-chr22:32869003..32869550,2	MCF-7	breast:
16	chr22:32499507..32500361-chr22:32774175..32775330,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241954	TF binding region
ENSG00000234479	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv520296	chr22:32774129-32774944	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773600-32775000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
13	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood
14	chr22:32774400-32775200	Enhancers	Brain Hippocampus Middle	brain
15	chr22:32774400-32775400	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:32774400-32775400	Enhancers	Fetal Muscle Leg	muscle
17	chr22:32774400-32775400	Enhancers	Spleen	Spleen
18	chr22:32774400-32781200	Weak transcription	Primary T cells from cord blood	blood
19	chr22:32774400-32781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:32774600-32775200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:32774600-32775200	Enhancers	Brain Cingulate Gyrus	brain
22	chr22:32774600-32775400	Enhancers	Brain Substantia Nigra	brain
23	chr22:32774600-32780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:32774800-32775000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:32774800-32775200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32774800-32775400	Enhancers	Brain Angular Gyrus	brain
27	chr22:32774800-32775400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:32774800-32775400	Enhancers	K562	blood

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