Variant report

Variant	rs114024386
Chromosome Location	chr3:21794354-21794355
allele	A/G
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	FOS	chr3:21794306-21794611	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr3:21794340-21794490	NHDF-neo	bronchial:	n/a	n/a
3	RAD21	chr3:21794300-21794533	HepG2	liver:	n/a	chr3:21794444-21794456
4	CTCF	chr3:21794316-21794573	MCF-7	breast:	n/a	n/a
5	RAD21	chr3:21794255-21794602	H1-hESC	embryonic stem cell:	n/a	chr3:21794444-21794456
6	ZNF143	chr3:21794270-21794633	GM12878	blood:	n/a	n/a
7	MYC	chr3:21794345-21794577	NB4	blood:	n/a	chr3:21794436-21794446
8	CTCF	chr3:21794328-21794538	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr3:21794247-21794629	GM12878	blood:	n/a	n/a
10	CTCF	chr3:21794337-21794564	GM12878	blood:	n/a	n/a
11	CTCF	chr3:21794306-21794527	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:21794340-21794490	SAEC	small airway:	n/a	n/a
13	STAT3	chr3:21794347-21794604	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr3:21794345-21794540	Fibrobl	skin:	n/a	n/a
15	CTCF	chr3:21794300-21794450	GM12872	blood:	n/a	n/a
16	CTCF	chr3:21794280-21794430	A549	lung:	n/a	n/a
17	RAD21	chr3:21794241-21794654	H1-hESC	embryonic stem cell:	n/a	chr3:21794444-21794456
18	CTCF	chr3:21794317-21794560	ProgFib	skin:	n/a	n/a
19	CTCF	chr3:21794301-21794573	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:21794340-21794490	GM12874	blood:	n/a	n/a
21	CTCF	chr3:21794300-21794450	RPTEC	kidney:	n/a	n/a
22	CTCF	chr3:21794351-21794539	HepG2	liver:	n/a	n/a
23	CTCF	chr3:21794346-21794521	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr3:21794300-21794450	GM12873	blood:	n/a	n/a
25	CTCF	chr3:21794309-21794580	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr3:21794340-21794490	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr3:21794225-21794589	SK-N-SH_RA	brain:	n/a	n/a
28	RAD21	chr3:21794269-21794626	IMR90	lung:	n/a	chr3:21794444-21794456
29	STAT3	chr3:21794329-21794523	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr3:21794291-21794623	Medullo	brain:	n/a	n/a
31	CTCF	chr3:21794306-21794542	K562	blood:	n/a	n/a
32	CTCF	chr3:21794303-21794517	A549	lung:	n/a	n/a
33	GTF2F1	chr3:21794347-21794480	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:21794334-21794546	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr3:21794340-21794490	GM12871	blood:	n/a	n/a
36	CTCF	chr3:21793366-21794946	SK-N-SH	brain:	n/a	chr3:21794209-21794218
37	CTCF	chr3:21794340-21794490	NHLF	lung:	n/a	n/a
38	CTCF	chr3:21794300-21794450	HAc	cerebellar:	n/a	n/a
39	CTCF	chr3:21794331-21794540	GM10266	blood:	n/a	n/a
40	CTCF	chr3:21794340-21794490	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr3:21794347-21794548	ECC-1	luminal epithelium:	n/a	n/a
42	TBL1XR1	chr3:21794281-21794429	K562	blood:	n/a	n/a
43	RAD21	chr3:21794281-21794629	GM12878	blood:	n/a	chr3:21794444-21794456
44	CTCF	chr3:21794280-21794430	BE2_C	brain:	n/a	n/a
45	CTCF	chr3:21794320-21794470	HA-sp	spinal cord:	n/a	n/a
46	RAD21	chr3:21794297-21794541	GM12878	blood:	n/a	chr3:21794444-21794456
47	MAX	chr3:21794301-21794611	NB4	blood:	n/a	chr3:21794436-21794446
48	CTCF	chr3:21794320-21794470	MCF-7	breast:	n/a	n/a
49	RAD21	chr3:21794172-21794688	SK-N-SH_RA	brain:	n/a	chr3:21794444-21794456
50	CTCF	chr3:21794333-21794538	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21793963..21794585-chr3:21876272..21877179,2	MCF-7	breast:
2	chr3:21793981..21794891-chr3:21935742..21936689,4	MCF-7	breast:

Variant related genes	Relation type
ZNF385D	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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1007665	chr3:21781727-21809266	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011725	chr3:21786893-21804428	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1015075	chr3:21791806-21809266	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv15440	chr3:21793027-21795819	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv876613	chr3:21794174-21825247	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793200-21795600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21793200-21795800	Weak transcription	HSMMtube	muscle
3	chr3:21793400-21794400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:21793400-21794800	Weak transcription	Fetal Heart	heart
5	chr3:21793400-21795800	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
7	chr3:21793800-21794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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