Variant report

Variant	rs545644060
Chromosome Location	chr7:102613971-102613972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:102613356-102614092	K562	blood:	n/a	n/a
2	MAFK	chr7:102613496-102614106	K562	blood:	n/a	n/a
3	REST	chr7:102613511-102614160	K562	blood:	n/a	n/a
4	YY1	chr7:102613814-102614049	H1-hESC	embryonic stem cell:	n/a	chr7:102613938-102613950
5	PML	chr7:102613327-102614248	K562	blood:	n/a	n/a
6	JUN	chr7:102613561-102613995	HUVEC	blood vessel:	n/a	n/a
7	TBL1XR1	chr7:102613828-102614140	K562	blood:	n/a	n/a
8	ZNF143	chr7:102613507-102614092	K562	blood:	n/a	n/a
9	MYC	chr7:102613569-102614172	K562	blood:	n/a	n/a
10	UBTF	chr7:102613501-102614514	K562	blood:	n/a	n/a
11	IRF1	chr7:102613315-102614134	K562	blood:	n/a	chr7:102613343-102613357
12	POLR2A	chr7:102613447-102614687	K562	blood:	n/a	n/a
13	TCF7L2	chr7:102613659-102614254	HCT-116	colon:	n/a	n/a
14	STAT5A	chr7:102613449-102614216	K562	blood:	n/a	n/a
15	ZMIZ1	chr7:102613505-102614141	K562	blood:	n/a	n/a
16	ZBTB7A	chr7:102613718-102614150	K562	blood:	n/a	n/a
17	GABPA	chr7:102613513-102614113	K562	blood:	n/a	n/a
18	TAF1	chr7:102613537-102614598	K562	blood:	n/a	n/a
19	YY1	chr7:102613741-102614146	K562	blood:	n/a	chr7:102613938-102613950
20	GATA2	chr7:102613323-102614105	HUVEC	blood vessel:	n/a	n/a
21	PML	chr7:102613395-102614428	K562	blood:	n/a	n/a
22	MYC	chr7:102613493-102614421	K562	blood:	n/a	n/a
23	SPI1	chr7:102613650-102613991	K562	blood:	n/a	n/a
24	GABPA	chr7:102613607-102614028	K562	blood:	n/a	n/a
25	BHLHE40	chr7:102613578-102614258	K562	blood:	n/a	n/a
26	FOS	chr7:102613553-102614057	HUVEC	blood vessel:	n/a	chr7:102613752-102613763
27	ELF1	chr7:102613531-102614021	K562	blood:	n/a	chr7:102613772-102613785
28	POLR2A	chr7:102613362-102614673	K562	blood:	n/a	n/a
29	MYC	chr7:102613553-102614074	NB4	blood:	n/a	n/a
30	MAZ	chr7:102613508-102614272	K562	blood:	n/a	n/a
31	STAT5A	chr7:102613714-102614047	K562	blood:	n/a	n/a
32	POLR2A	chr7:102613412-102614067	HUVEC	blood vessel:	n/a	n/a
33	CEBPB	chr7:102613340-102614174	K562	blood:	n/a	n/a
34	MYC	chr7:102613539-102614186	K562	blood:	n/a	n/a
35	POLR2A	chr7:102613188-102614671	K562	blood:	n/a	n/a
36	TAF1	chr7:102613535-102614192	K562	blood:	n/a	n/a
37	TAL1	chr7:102613762-102614018	K562	blood:	n/a	n/a
38	E2F6	chr7:102613632-102614070	K562	blood:	n/a	n/a
39	CHD2	chr7:102613905-102614176	K562	blood:	n/a	n/a
40	SRF	chr7:102613591-102614056	K562	blood:	n/a	n/a
41	YY1	chr7:102613695-102614082	H1-hESC	embryonic stem cell:	n/a	chr7:102613938-102613950
42	EP300	chr7:102613478-102614058	GM12878	blood:	n/a	n/a
43	HEY1	chr7:102613421-102614695	K562	blood:	n/a	n/a
44	POLR2A	chr7:102613349-102614031	U87	brain:	n/a	n/a
45	IRF1	chr7:102613325-102614493	K562	blood:	n/a	chr7:102613343-102613357
46	NR2F2	chr7:102613345-102616007	K562	blood:	n/a	n/a
47	TBL1XR1	chr7:102613467-102614152	K562	blood:	n/a	n/a
48	CUX1	chr7:102613462-102614241	K562	blood:	n/a	n/a
49	POLR2A	chr7:102613626-102614082	HUVEC	blood vessel:	n/a	n/a
50	TBP	chr7:102613469-102614434	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102497060..102498758-chr7:102613043..102615053,2	K562	blood:
2	chr7:102613006..102614516-chr7:102715583..102717366,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC17-1	chr7:102613969-102614218	ENSG00000230257

No data

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000238324	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3366768	chr7:102613816-102618977	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102591000-102619400	Weak transcription	HSMM	muscle
2	chr7:102608800-102618600	Weak transcription	Osteobl	bone
3	chr7:102611800-102615000	Active TSS	K562	blood
4	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:102613600-102614400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:102613600-102615800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:102613800-102614000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:102613800-102614200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:102613800-102614200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:102613800-102614200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr7:102613800-102615600	Enhancers	HUVEC	blood vessel
13	chr7:102613800-102617000	Weak transcription	Fetal Stomach	stomach
14	chr7:102613800-102618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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