Variant report

Variant	rs375350918
Chromosome Location	chr2:34963821-34963822
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	chr2:34963821-34963995	HepG2	liver:	n/a	chr2:34963821-34963828
2	REST	chr2:34963702-34964027	H1-hESC	embryonic stem cell:	n/a	n/a
3	WRNIP1	chr2:34963762-34964179	GM12878	blood:	n/a	n/a
4	RAD21	chr2:34963786-34964122	MCF-7	breast:	n/a	chr2:34963819-34963828
5	CTCF	chr2:34963820-34964090	MCF-7	breast:	n/a	chr2:34963821-34963828
6	RAD21	chr2:34963697-34964145	H1-hESC	embryonic stem cell:	n/a	chr2:34963819-34963828
7	CTCF	chr2:34963800-34963950	HEK293	kidney:	n/a	chr2:34963821-34963828
8	CTCF	chr2:34963721-34964239	GM12878	blood:	n/a	chr2:34963821-34963828
9	RAD21	chr2:34963680-34964223	MCF-7	breast:	n/a	chr2:34963819-34963828
10	ZNF143	chr2:34963774-34964124	GM12878	blood:	n/a	n/a
11	CTCF	chr2:34963804-34964004	K562	blood:	n/a	chr2:34963821-34963828
12	CTCF	chr2:34963820-34963970	SK-N-SH_RA	brain:	n/a	chr2:34963821-34963828
13	CTCF	chr2:34963784-34964024	HepG2	liver:	n/a	chr2:34963821-34963828
14	REST	chr2:34963710-34964065	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr2:34963770-34964090	GM12878	blood:	n/a	n/a
16	RAD21	chr2:34963682-34964136	HepG2	liver:	n/a	chr2:34963819-34963828
17	CTCF	chr2:34963720-34963870	GM12864	blood:	n/a	chr2:34963821-34963828
18	RAD21	chr2:34963651-34964111	H1-hESC	embryonic stem cell:	n/a	chr2:34963819-34963828
19	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
20	RAD21	chr2:34963768-34964062	HepG2	liver:	n/a	chr2:34963819-34963828
21	EBF1	chr2:34963794-34963986	GM12878	blood:	n/a	n/a
22	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828
23	RAD21	chr2:34963813-34964126	ECC-1	luminal epithelium:	n/a	chr2:34963819-34963828
24	RAD21	chr2:34963578-34964234	H1-hESC	embryonic stem cell:	n/a	chr2:34963819-34963828
25	RAD21	chr2:34963799-34964048	HepG2	liver:	n/a	chr2:34963819-34963828
26	RAD21	chr2:34963764-34964051	SK-N-SH_RA	brain:	n/a	chr2:34963819-34963828
27	RAD21	chr2:34963809-34964059	SK-N-SH_RA	brain:	n/a	chr2:34963819-34963828
28	CTCF	chr2:34963780-34963930	GM12865	blood:	n/a	chr2:34963821-34963828
29	CTCF	chr2:34963740-34963990	GM12865	blood:	n/a	chr2:34963821-34963828
30	ZNF143	chr2:34963698-34964123	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:34963820-34963970	GM12873	blood:	n/a	chr2:34963821-34963828
32	CTCF	chr2:34963740-34964030	HL-60	blood:	n/a	chr2:34963821-34963828
33	RAD21	chr2:34963683-34964138	GM12878	blood:	n/a	chr2:34963819-34963828
34	SMC3	chr2:34963722-34964106	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232153	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999091	chr2:34154486-34993188	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv535629	chr2:34154486-34993188	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873804	chr2:34156867-35047107	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv873810	chr2:34456200-35047107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1002396	chr2:34581285-34993188	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv535633	chr2:34581285-34993188	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv873821	chr2:34738616-35416075	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1003361	chr2:34746445-35202302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1000535	chr2:34831613-34986940	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv535634	chr2:34831613-34986940	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873825	chr2:34892832-35115848	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1003322	chr2:34898412-35216795	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv581375	chr2:34912850-35032910	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
14	nsv873826	chr2:34915314-34986833	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv873828	chr2:34919515-35022419	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
16	nsv1010863	chr2:34922329-35052108	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
17	nsv1002915	chr2:34923003-35052108	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
18	nsv873829	chr2:34928080-35022419	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
19	nsv998914	chr2:34944923-34964450	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
20	nsv430679	chr2:34946679-35025804	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
21	nsv1003970	chr2:34956712-35013666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
22	nsv1008947	chr2:34959421-35019746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
23	nsv581376	chr2:34962890-34966355	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
24	nsv581377	chr2:34962890-34966406	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34961400-34967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:34961600-34966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34963200-34964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:34963800-34964200	Enhancers	Pancreas	Pancrea

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