Variant report

Variant	rs574148656
Chromosome Location	chr14:46185794-46185795
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	CTCF	chr14:46185728-46186084	T-47D	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
2	CTCF	chr14:46185762-46186067	GM12878	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
3	CTCF	chr14:46185718-46186173	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
4	CTCF	chr14:46185760-46185910	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr14:46185780-46185930	HFF	foreskin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
6	CTCF	chr14:46185760-46185910	GM12878	blood:	n/a	n/a
7	CTCF	chr14:46185740-46185890	HMEC	breast:	n/a	n/a
8	CTCF	chr14:46185780-46185930	HCT-116	colon:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
9	RAD21	chr14:46185729-46186121	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:46185780-46185930	GM12873	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
11	CTCF	chr14:46185760-46185910	GM12873	blood:	n/a	n/a
12	GATA3	chr14:46185761-46186154	T-47D	breast:	n/a	n/a
13	CTCF	chr14:46185780-46185930	HRE	kidney:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
14	CTCF	chr14:46185672-46186055	T-47D	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
15	CTCF	chr14:46185780-46185930	HepG2	liver:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
16	CTCF	chr14:46185780-46185930	NHLF	lung:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
17	CTCF	chr14:46185760-46185910	BJ	skin:	n/a	n/a
18	RAD21	chr14:46185701-46186208	MCF-7	breast:	n/a	n/a
19	RAD21	chr14:46185740-46186169	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr14:46185680-46186180	MCF-7	breast:	n/a	n/a
21	POLR2A	chr14:46185680-46186340	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr14:46185784-46186071	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
23	RAD21	chr14:46185708-46186111	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:46185641-46186214	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
25	GATA3	chr14:46185769-46186323	T-47D	breast:	n/a	n/a
26	POLR2A	chr14:46185758-46186317	H1-neurons	neurons:	n/a	n/a
27	PBX3	chr14:46185711-46186156	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr14:46185690-46186025	H1-hESC	embryonic stem cell:	n/a	chr14:46185903-46185921 chr14:46185906-46185915

No.	Distal block	Cell Line	Cell type
1	chr14:46185447..46186022-chr14:46279860..46280372,3	MCF-7	breast:
2	chr14:46185365..46185918-chr14:46409681..46410218,2	MCF-7	breast:
3	chr14:46182590..46185086-chr14:46185381..46187428,2	MCF-7	breast:
4	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258616	TF binding region
ENSG00000258616	Chromatin interaction
ENSG00000258700	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
2	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2422441	chr14:45848850-46325684	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1035463	chr14:45940562-46201777	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542083	chr14:45940562-46201777	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv976289	chr14:45973774-46282154	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1044871	chr14:46007760-46432325	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv456282	chr14:46024675-46458696	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv564729	chr14:46024675-46458696	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564730	chr14:46122141-46729024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2761835	chr14:46145141-46231045	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv901851	chr14:46184595-46361884	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46183000-46185800	Weak transcription	Fetal Kidney	kidney
2	chr14:46183600-46186200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:46185400-46187600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:46185600-46186200	Active TSS	Pancreatic Islets	Pancreatic Islet

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