Variant report

Variant	rs141585580
Chromosome Location	chr4:92034403-92034404
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	EBF1	chr4:92034344-92034558	GM12878	blood:	n/a	n/a
2	CTCF	chr4:92034360-92034510	HAc	cerebellar:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
3	CTCF	chr4:92034386-92034505	Fibrobl	skin:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
4	RAD21	chr4:92034216-92034718	ECC-1	luminal epithelium:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
5	CTCF	chr4:92034380-92034530	GM12866	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
6	CTCF	chr4:92034400-92034550	HCT-116	colon:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
7	CTCF	chr4:92034340-92034490	HUVEC	blood vessel:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
8	RAD21	chr4:92034313-92034610	HepG2	liver:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
9	CTCF	chr4:92034380-92034530	SK-N-SH_RA	brain:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
10	CTCF	chr4:92034380-92034530	GM12872	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
11	CTCF	chr4:92034360-92034510	GM12873	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
12	CTCF	chr4:92034380-92034530	HPAF	blood vessel:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
13	CTCF	chr4:92034400-92034550	HMF	breast:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
14	CTCF	chr4:92034360-92034510	AG09319	gingival:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
15	CTCF	chr4:92034380-92034530	SAEC	small airway:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
16	RAD21	chr4:92034375-92034502	K562	blood:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
17	CTCF	chr4:92034380-92034530	GM12871	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
18	RAD21	chr4:92034182-92034810	A549	lung:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
19	CTCF	chr4:92034400-92034550	GM12875	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
20	CTCF	chr4:92034380-92034530	AG04449	skin:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
21	CTCF	chr4:92034320-92034470	BJ	skin:	n/a	n/a
22	CTCF	chr4:92034360-92034510	GM12867	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
23	CTCF	chr4:92034400-92034550	GM12874	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
24	CTCF	chr4:92034353-92034566	GM10266	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
25	CTCF	chr4:92034380-92034530	HEEpiC	esophagus:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
26	CTCF	chr4:92034340-92034490	HA-sp	spinal cord:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
27	CTCF	chr4:92034360-92034510	HVMF	connective:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
28	CTCF	chr4:92034380-92034530	HepG2	liver:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
29	STAT3	chr4:92034230-92034640	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr4:92034380-92034530	BE2_C	brain:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
31	RAD21	chr4:92034242-92034764	H1-hESC	embryonic stem cell:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
32	CTCF	chr4:92034400-92034550	GM12867	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
33	CTCF	chr4:92034300-92034450	GM12869	blood:	n/a	n/a
34	RAD21	chr4:92034232-92034733	SK-N-SH_RA	brain:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
35	CTCF	chr4:92034321-92034633	HUVEC	blood vessel:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
36	CTCF	chr4:92034278-92034610	A549	lung:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
37	RAD21	chr4:92034212-92034772	MCF-7	breast:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
38	CTCF	chr4:92034249-92034640	HepG2	liver:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
39	CTCF	chr4:92034400-92034550	HBMEC	blood vessel:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
40	CTCF	chr4:92034400-92034550	HRPEpiC	eye:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
41	CTCF	chr4:92034400-92034550	RPTEC	kidney:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
42	CTCF	chr4:92034380-92034530	HEK293	kidney:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
43	CTCF	chr4:92034320-92034470	HRE	kidney:	n/a	n/a
44	CTCF	chr4:92034252-92034688	GM12878	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
45	CTCF	chr4:92034400-92034550	BJ	skin:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
46	CTCF	chr4:92034380-92034530	WERI-Rb-1	eye:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
47	CEBPB	chr4:92034320-92034601	ECC-1	luminal epithelium:	n/a	n/a
48	SMC3	chr4:92034290-92034615	HepG2	liver:	n/a	chr4:92034457-92034471
49	CTCF	chr4:92034360-92034510	A549	lung:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
50	CTCF	chr4:92034334-92034590	GM13977	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248984	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv879561	chr4:92005403-92061748	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3448147	chr4:92011533-92275731	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879562	chr4:92023320-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv879563	chr4:92028168-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv879564	chr4:92033255-92184080	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92034400-92035400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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