Variant report

Variant	rs541948051
Chromosome Location	chr14:46185929-46185930
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	chr14:46185728-46186084	T-47D	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
2	CTCF	chr14:46185860-46186010	HEK293	kidney:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
3	CTCF	chr14:46185912-46185976	K562	blood:	n/a	n/a
4	CTCF	chr14:46185860-46186010	HCFaa	heart:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
5	CTCF	chr14:46185820-46185970	SK-N-SH_RA	brain:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
6	CTCF	chr14:46185800-46185950	SK-N-SH_RA	brain:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
7	CTCF	chr14:46185800-46185950	RPTEC	kidney:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
8	CTCF	chr14:46185762-46186067	GM12878	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
9	CTCF	chr14:46185840-46185990	HRE	kidney:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
10	CTCF	chr14:46185851-46186031	ProgFib	skin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
11	CTCF	chr14:46185838-46186063	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
12	CTCF	chr14:46185718-46186173	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
13	CTCF	chr14:46185880-46186030	HEEpiC	esophagus:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
14	CTCF	chr14:46185840-46185990	NHEK	skin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
15	RAD21	chr14:46185879-46186031	HepG2	liver:	n/a	n/a
16	CTCF	chr14:46185800-46185950	HFF-Myc	foreskin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
17	CTCF	chr14:46185860-46186024	A549	lung:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
18	CTCF	chr14:46185840-46185990	HCPEpiC	choroid plexus:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
19	CTCF	chr14:46185780-46185930	HFF	foreskin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
20	CTCF	chr14:46185820-46185970	HA-sp	spinal cord:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
21	CTCF	chr14:46185840-46185990	HMF	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
22	CTCF	chr14:46185836-46186061	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
23	CTCF	chr14:46185800-46185950	GM12865	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
24	CTCF	chr14:46185800-46185950	GM06990	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
25	CTCF	chr14:46185808-46186059	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
26	CTCF	chr14:46185780-46185930	HCT-116	colon:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
27	CTCF	chr14:46185800-46185950	HEEpiC	esophagus:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
28	CTCF	chr14:46185820-46185970	HFF-Myc	foreskin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
29	CTCF	chr14:46185860-46186010	A549	lung:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
30	CTCF	chr14:46185800-46185950	Caco-2	colon:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
31	RAD21	chr14:46185729-46186121	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr14:46185800-46185950	SAEC	small airway:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
33	CTCF	chr14:46185810-46186041	Gliobla	brain:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
34	CTCF	chr14:46185840-46185990	HA-sp	spinal cord:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
35	CTCF	chr14:46185820-46185970	AG09309	skin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
36	CTCF	chr14:46185860-46186010	HAc	cerebellar:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
37	CTCF	chr14:46185889-46185995	Fibrobl	skin:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
38	CTCF	chr14:46185860-46186010	HCPEpiC	choroid plexus:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
39	CTCF	chr14:46185854-46185978	Hela-S3	cervix:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
40	CTCF	chr14:46185780-46185930	GM12873	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
41	CTCF	chr14:46185807-46185987	LNCaP	prostate:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
42	GATA3	chr14:46185761-46186154	T-47D	breast:	n/a	n/a
43	CTCF	chr14:46185780-46185930	HRE	kidney:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
44	CTCF	chr14:46185860-46186010	Caco-2	colon:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
45	CTCF	chr14:46185901-46185985	GM12891	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
46	CTCF	chr14:46185672-46186055	T-47D	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
47	CTCF	chr14:46185860-46186010	HBMEC	blood vessel:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
48	CTCF	chr14:46185780-46185930	HepG2	liver:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
49	CTCF	chr14:46185880-46186030	HMEC	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
50	CTCF	chr14:46185800-46185950	NB4	blood:	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	chr14:46182590..46185086-chr14:46185381..46187428,2	MCF-7	breast:
3	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258616	TF binding region
ENSG00000258616	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46183600-46186200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:46185400-46187600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:46185600-46186200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:46185800-46186200	Enhancers	Adipose Nuclei	Adipose
5	chr14:46185800-46186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:46185800-46186400	Enhancers	Fetal Kidney	kidney

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