Variant report

Variant	rs2843025
Chromosome Location	chr1:120428796-120428797
allele	C/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	CTCF	chr1:120428495-120429352	SK-N-SH	brain:	n/a	chr1:120428706-120428719
2	CREB1	chr1:120428735-120429177	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:120428781-120429147	K562	blood:	n/a	n/a
4	SMC3	chr1:120428140-120429290	SK-N-SH	brain:	n/a	chr1:120428755-120428762
5	RAD21	chr1:120428573-120429405	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr1:120428711-120429114	K562	blood:	n/a	n/a
7	CTCF	chr1:120428746-120429217	HCT-116	colon:	n/a	n/a
8	CTCF	chr1:120428704-120429185	K562	blood:	n/a	chr1:120428706-120428719
9	CTCF	chr1:120428758-120429231	IMR90	lung:	n/a	n/a
10	RAD21	chr1:120428683-120429327	HCT-116	colon:	n/a	n/a
11	RAD21	chr1:120428681-120429280	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr1:120428783-120429156	HepG2	liver:	n/a	n/a
13	RAD21	chr1:120428738-120429188	HepG2	liver:	n/a	n/a
14	CTCF	chr1:120428791-120429079	K562	blood:	n/a	n/a
15	RAD21	chr1:120428747-120429260	HepG2	liver:	n/a	n/a
16	CTCF	chr1:120428754-120429214	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:120428760-120428910	WI-38	lung:	n/a	n/a
18	RAD21	chr1:120428679-120429248	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr1:120428784-120429195	IMR90	lung:	n/a	n/a
20	CTCF	chr1:120428562-120429225	HCT-116	colon:	n/a	chr1:120428706-120428719
21	CTCF	chr1:120428791-120429123	GM19238	blood:	n/a	n/a
22	CTCF	chr1:120428543-120429302	A549	lung:	n/a	chr1:120428706-120428719
23	CTCF	chr1:120428785-120429110	GM13977	blood:	n/a	n/a
24	CTCF	chr1:120428755-120429161	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr1:120428779-120429201	HepG2	liver:	n/a	n/a
26	RAD21	chr1:120428704-120429183	A549	lung:	n/a	n/a
27	RAD21	chr1:120428761-120429163	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:120428550-120429237	MCF-7	breast:	n/a	chr1:120428706-120428719
29	RAD21	chr1:120428696-120429191	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:120428721-120429196	A549	lung:	n/a	n/a
31	RAD21	chr1:120428558-120429352	HCT-116	colon:	n/a	n/a
32	CTCF	chr1:120428733-120429256	MCF-7	breast:	n/a	n/a
33	RAD21	chr1:120428754-120429288	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:120428760-120428910	A549	lung:	n/a	n/a
35	CTCF	chr1:120428756-120429179	GM12878	blood:	n/a	n/a
36	RAD21	chr1:120428769-120429146	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120428374..120430929-chr1:144532739..144535945,3	K562	blood:

Variant related genes	Relation type
NOTCH2P1	TF binding region
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2994809	0.92[TSI][hapmap]
rs6697258	1.00[MEX][hapmap]

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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv547625	chr1:120422705-120466108	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120428600-120428800	Enhancers	Aorta	Aorta
2	chr1:120428600-120429000	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links