Variant report

Variant	rs74399595
Chromosome Location	chr21:40757766-40757767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr21:40757430-40758329	SK-N-SH	brain:	n/a	chr21:40757946-40757957 chr21:40757946-40757955 chr21:40757943-40757957 chr21:40757946-40757960
2	MYBL2	chr21:40757326-40758187	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:40757705-40758225	MCF-7	breast:	n/a	n/a
4	ZNF263	chr21:40757550-40757895	HEK293-T-REx	kidney:	n/a	n/a
5	SP1	chr21:40757574-40757886	A549	lung:	n/a	n/a
6	MAX	chr21:40757342-40758300	A549	lung:	n/a	n/a
7	REST	chr21:40757307-40757854	HepG2	liver:	n/a	chr21:40757369-40757383
8	POLR2A	chr21:40757699-40758337	U87	brain:	n/a	n/a
9	TAF1	chr21:40757630-40758191	ECC-1	luminal epithelium:	n/a	n/a
10	MAFK	chr21:40757626-40757911	HepG2	liver:	n/a	n/a
11	POLR2A	chr21:40756239-40759236	HepG2	liver:	n/a	n/a
12	ATF3	chr21:40757394-40758068	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:40757566-40758505	ECC-1	luminal epithelium:	n/a	n/a
14	HNF4G	chr21:40757442-40757984	HepG2	liver:	n/a	chr21:40757694-40757709
15	MYC	chr21:40757350-40758100	HepG2	liver:	n/a	n/a
16	MXI1	chr21:40757135-40758592	HepG2	liver:	n/a	n/a
17	SP1	chr21:40757508-40758020	A549	lung:	n/a	n/a
18	MYBL2	chr21:40757209-40757902	HepG2	liver:	n/a	n/a
19	RUNX3	chr21:40757664-40757897	GM12878	blood:	n/a	n/a
20	FOXA1	chr21:40757515-40757927	HepG2	liver:	n/a	n/a
21	RFX5	chr21:40757096-40758101	HepG2	liver:	n/a	n/a
22	POLR2A	chr21:40756685-40758650	HepG2	liver:	n/a	n/a
23	EBF1	chr21:40757654-40757903	GM12878	blood:	n/a	n/a
24	ATF3	chr21:40757524-40757968	HepG2	liver:	n/a	n/a
25	NRF1	chr21:40757536-40758469	HepG2	liver:	n/a	chr21:40758336-40758347 chr21:40757946-40757957 chr21:40758336-40758345 chr21:40757946-40757955 chr21:40758333-40758347 chr21:40757943-40757957 chr21:40757946-40757960 chr21:40758345-40758354
26	MAX	chr21:40757484-40758211	SK-N-SH	brain:	n/a	n/a
27	CREB1	chr21:40757588-40758091	A549	lung:	n/a	n/a
28	HNF4A	chr21:40757341-40758033	HepG2	liver:	n/a	chr21:40757750-40757765 chr21:40757695-40757710
29	POLR2A	chr21:40756621-40758606	HepG2	liver:	n/a	n/a
30	POLR2A	chr21:40757089-40758606	HepG2	liver:	n/a	n/a
31	POLR2A	chr21:40757753-40758316	GM12878	blood:	n/a	n/a
32	HEY1	chr21:40756667-40758658	HepG2	liver:	n/a	n/a
33	TBP	chr21:40757262-40758565	HepG2	liver:	n/a	n/a
34	POLR2A	chr21:40757598-40758077	MCF-7	breast:	n/a	n/a
35	TAF1	chr21:40757202-40758054	HepG2	liver:	n/a	n/a
36	POLR2A	chr21:40757513-40758203	A549	lung:	n/a	n/a
37	TEAD4	chr21:40757617-40757822	HepG2	liver:	n/a	n/a
38	RCOR1	chr21:40757287-40758543	HepG2	liver:	n/a	n/a
39	EP300	chr21:40757366-40758012	HepG2	liver:	n/a	n/a
40	MAX	chr21:40757421-40758246	A549	lung:	n/a	n/a
41	POLR2A	chr21:40756585-40758739	HepG2	liver:	n/a	n/a
42	EP300	chr21:40757343-40758131	HepG2	liver:	n/a	n/a
43	MAX	chr21:40757401-40758591	HepG2	liver:	n/a	n/a
44	JUND	chr21:40757537-40758385	HepG2	liver:	n/a	chr21:40758311-40758319
45	MYC	chr21:40757693-40757887	MCF-7	breast:	n/a	n/a
46	POLR2A	chr21:40757495-40758109	A549	lung:	n/a	n/a
47	MAX	chr21:40757566-40757898	A549	lung:	n/a	n/a
48	CHD2	chr21:40757606-40758007	GM12878	blood:	n/a	n/a
49	POLR2A	chr21:40757631-40758607	NB4	blood:	n/a	n/a
50	HNF4A	chr21:40757390-40757945	HepG2	liver:	n/a	chr21:40757750-40757765 chr21:40757695-40757710

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40757750-40757800	H1-hESC	embryonic stem cell:	embryo
2	chr21:40757750-40757800	GM12891	blood:	n/a
3	chr21:40757750-40757800	NH-A	brain:	n/a
4	chr21:40757750-40757800	HRCEpiC	kidney:	n/a
5	chr21:40757750-40757800	Hela-S3	cervix:	n/a
6	chr21:40757750-40757800	MCF10A-Er-Src	breast:	n/a
7	chr21:40757750-40757800	AG09309	skin:	n/a
8	chr21:40757750-40757800	HCT-116	colon:	n/a
9	chr21:40757750-40757800	HCM	heart:	n/a
10	chr21:40757750-40757800	SAEC	small airway:	n/a
11	chr21:40757750-40757800	U87	brain:	n/a
12	chr21:40757750-40757800	A549	lung:	n/a
13	chr21:40757750-40757800	SK-N-SH_RA	brain:	n/a
14	chr21:40757750-40757800	AG04449	skin:	fetal
15	chr21:40757750-40757800	PANC-1	pancreas:	n/a
16	chr21:40757750-40757800	HRPEpiC	eye:	n/a
17	chr21:40757750-40757800	HUVEC	blood vessel:	n/a
18	chr21:40757750-40757800	AG10803	skin:	n/a
19	chr21:40757750-40757800	PrEC	prostate:	n/a
20	chr21:40757750-40757800	IMR90	lung:	fetal
21	chr21:40757750-40757800	PFSK-1	brain:	n/a
22	chr21:40757750-40757800	Hepatocyte	liver:	n/a
23	chr21:40757750-40757800	BE2_C	brain:	n/a
24	chr21:40757750-40757800	AG09319	gingival:	n/a
25	chr21:40757750-40757800	ECC-1	luminal epithelium:	n/a
26	chr21:40757750-40757800	HIPEpiC	eye:	n/a
27	chr21:40757750-40757800	Jurkat	blood:	n/a
28	chr21:40757750-40757800	CMK	blood:	n/a
29	chr21:40757750-40757800	GM19239	blood:	n/a
30	chr21:40757750-40757800	HRE	kidney:	n/a
31	chr21:40757750-40757800	ovcar-3	ovarian:	n/a
32	chr21:40757750-40757800	SK-N-SH	brain:	n/a
33	chr21:40757750-40757800	LNCaP	prostate:	n/a
34	chr21:40757750-40757800	HL-60	blood:	n/a
35	chr21:40757750-40757800	K562	blood:	n/a
36	chr21:40757750-40757800	GM06990	blood:	n/a
37	chr21:40757750-40757800	GM12878	blood:	n/a
38	chr21:40757750-40757800	HCF	heart:	n/a
39	chr21:40757750-40757800	AG04450	lung:	fetal
40	chr21:40757750-40757800	ProgFib	skin:	n/a
41	chr21:40757750-40757800	Caco-2	colon:	n/a
42	chr21:40757750-40757800	HepG2	liver:	n/a
43	chr21:40757750-40757800	T-47D	breast:	n/a
44	chr21:40757750-40757800	MCF-7	breast:	n/a
45	chr21:40757750-40757800	SK-N-MC	brain:	n/a
46	chr21:40757750-40757800	SKMC	muscle:	n/a
47	chr21:40757750-40757800	HEEpiC	esophagus:	n/a
48	chr21:40757750-40757800	BJ	skin:	n/a
49	chr21:40757750-40757800	NHDF-neo	bronchial:	n/a
50	chr21:40757750-40757800	NHBE	bronchial:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40757591..40761225-chr21:40763023..40767191,7	K562	blood:
2	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
3	chr21:40750855..40754449-chr21:40757264..40761324,13	K562	blood:
4	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
5	chr21:40750751..40754678-chr21:40755594..40761324,12	K562	blood:
6	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
7	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
8	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:
9	21:40687235-40690033..21:40757151-40764378	K562	blood:
10	chr21:40750392..40754801-chr21:40757428..40762186,12	MCF-7	breast:
11	chr21:40755802..40758273-chr21:40758369..40760779,2	MCF-7	breast:
12	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
13	chr21:40693407..40696384-chr21:40756189..40758708,3	MCF-7	breast:
14	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
15	21:40686083-40686932..21:40757151-40764378	K562	blood:
16	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
17	chr21:40750891..40755008-chr21:40755976..40761346,13	MCF-7	breast:

No data

Variant related genes	Relation type
WRB	TF binding region
WRB	CpG island
ENSG00000238556	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000183527	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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3364865	chr21:40757556-40757943	Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40753000-40758000	Weak transcription	Small Intestine	intestine
2	chr21:40753200-40759400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:40753200-40759800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40753400-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:40753400-40759400	Weak transcription	Aorta	Aorta
6	chr21:40753400-40760200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:40753600-40757800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:40753600-40757800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:40753600-40758000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:40753600-40758000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:40753600-40758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:40753600-40758200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:40753600-40758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:40753600-40759000	Weak transcription	Hela-S3	cervix
15	chr21:40753600-40759000	Weak transcription	K562	blood
16	chr21:40753600-40759200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:40753600-40759200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:40753600-40759600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:40754600-40758200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr21:40754800-40759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:40756000-40758000	Active TSS	HepG2	liver
22	chr21:40756200-40758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr21:40756600-40758000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:40756600-40758000	Active TSS	Liver	Liver
25	chr21:40756600-40759200	Enhancers	Fetal Heart	heart
26	chr21:40756600-40759400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:40756600-40759600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:40756800-40757800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:40756800-40758200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr21:40757000-40757800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:40757000-40758400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:40757000-40758400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
33	chr21:40757000-40758400	Enhancers	Stomach Mucosa	stomach
34	chr21:40757000-40758600	Enhancers	Fetal Brain Male	brain
35	chr21:40757200-40757800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:40757200-40757800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
37	chr21:40757200-40757800	Flanking Active TSS	NH-A	brain
38	chr21:40757200-40758000	Genic enhancers	Gastric	stomach
39	chr21:40757200-40758400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:40757200-40758400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr21:40757200-40758600	Active TSS	Brain Substantia Nigra	brain
42	chr21:40757200-40758600	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr21:40757200-40758600	Flanking Active TSS	Osteobl	bone
44	chr21:40757400-40757800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr21:40757400-40757800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:40757400-40757800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:40757400-40757800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr21:40757400-40757800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:40757400-40757800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:40757400-40757800	Flanking Active TSS	Colonic Mucosa	Colon

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