Variant report

Variant	rs141584046
Chromosome Location	chr14:68171541-68171542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:68171036-68171688	HepG2	liver:	n/a	n/a
2	RAD21	chr14:68171123-68171594	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr14:68171179-68171575	A549	lung:	n/a	n/a
4	RFX5	chr14:68171132-68171542	Hela-S3	cervix:	n/a	chr14:68171421-68171434
5	CTCF	chr14:68171206-68171554	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr14:68171167-68171595	K562	blood:	n/a	n/a
7	EP300	chr14:68171283-68171577	K562	blood:	n/a	n/a
8	RAD21	chr14:68171083-68171670	MCF-7	breast:	n/a	n/a
9	MAZ	chr14:68171156-68171601	HepG2	liver:	n/a	n/a
10	CTCF	chr14:68171100-68171630	MCF-7	breast:	n/a	n/a
11	SMC3	chr14:68171164-68171566	HepG2	liver:	n/a	n/a
12	CTCF	chr14:68170919-68172143	A549	lung:	n/a	n/a
13	RAD21	chr14:68171160-68171642	HepG2	liver:	n/a	n/a
14	CTCF	chr14:68171440-68171590	GM12870	blood:	n/a	n/a
15	CUX1	chr14:68171280-68171706	K562	blood:	n/a	n/a
16	RAD21	chr14:68170981-68171775	HCT-116	colon:	n/a	n/a
17	SPI1	chr14:68170913-68171738	GM12878	blood:	n/a	chr14:68170963-68170976
18	CTCF	chr14:68171253-68171661	HCT-116	colon:	n/a	n/a
19	CTCF	chr14:68171107-68171662	MCF-7	breast:	n/a	n/a
20	SMC3	chr14:68171149-68171556	GM12878	blood:	n/a	n/a
21	SMC3	chr14:68171167-68171541	K562	blood:	n/a	n/a
22	MAFK	chr14:68171167-68171587	K562	blood:	n/a	n/a
23	CTCF	chr14:68171004-68171761	HCT-116	colon:	n/a	n/a
24	RAD21	chr14:68171188-68171542	K562	blood:	n/a	n/a
25	RAD21	chr14:68171120-68171582	IMR90	lung:	n/a	n/a
26	CTCF	chr14:68171239-68171566	Lung_OC	lung:	n/a	n/a
27	RAD21	chr14:68171096-68171630	ECC-1	luminal epithelium:	n/a	n/a
28	RAD21	chr14:68171102-68171563	GM12878	blood:	n/a	n/a
29	SPI1	chr14:68171076-68171561	HL-60	blood:	n/a	n/a
30	RAD21	chr14:68171181-68171547	GM12878	blood:	n/a	n/a
31	ZNF143	chr14:68171188-68171553	GM12878	blood:	n/a	n/a
32	CTCF	chr14:68171138-68171608	IMR90	lung:	n/a	n/a
33	RAD21	chr14:68171142-68171650	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr14:68171156-68171601	HepG2	liver:	n/a	n/a
35	CTCF	chr14:68171520-68171670	WI-38	lung:	n/a	n/a
36	CTCF	chr14:68171400-68171550	HAc	cerebellar:	n/a	n/a
37	RAD21	chr14:68171096-68171659	MCF-7	breast:	n/a	n/a
38	SMC3	chr14:68170945-68171599	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr14:68171063-68171666	A549	lung:	n/a	n/a
40	RAD21	chr14:68171058-68171632	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr14:68171031-68171804	SK-N-SH	brain:	n/a	n/a
42	RAD21	chr14:68170907-68171653	HCT-116	colon:	n/a	chr14:68170973-68170987
43	SMC3	chr14:68171074-68171970	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr14:68171143-68171587	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr14:68171130-68171549	HepG2	liver:	n/a	n/a
46	RAD21	chr14:68171131-68171631	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr14:68171158-68171606	GM12878	blood:	n/a	n/a
48	TAL1	chr14:68171457-68171606	K562	blood:	n/a	n/a
49	RAD21	chr14:68170819-68172079	SK-N-SH	brain:	n/a	chr14:68170973-68170987
50	RAD21	chr14:68171056-68171814	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68171536-68171586	Hepatocyte	liver:	n/a
2	chr14:68171536-68171586	ovcar-3	ovarian:	n/a
3	chr14:68171536-68171586	GM06990	blood:	n/a
4	chr14:68171536-68171586	Caco-2	colon:	n/a
5	chr14:68171536-68171586	LNCaP	prostate:	n/a
6	chr14:68171536-68171586	AoSMC	blood vessel:	n/a
7	chr14:68171536-68171586	AG10803	skin:	n/a
8	chr14:68171536-68171586	BE2_C	brain:	n/a
9	chr14:68171536-68171586	IMR90	lung:	fetal
10	chr14:68171536-68171586	PFSK-1	brain:	n/a
11	chr14:68171536-68171586	SK-N-SH	brain:	n/a
12	chr14:68171536-68171586	GM12892	blood:	n/a
13	chr14:68171536-68171586	HEK293	kidney:	embryo
14	chr14:68171536-68171586	SAEC	small airway:	n/a
15	chr14:68171536-68171586	ProgFib	skin:	n/a
16	chr14:68171536-68171586	GM12891	blood:	n/a
17	chr14:68171536-68171586	NHDF-neo	bronchial:	n/a
18	chr14:68171536-68171586	HRE	kidney:	n/a
19	chr14:68171536-68171586	GM19239	blood:	n/a
20	chr14:68171536-68171586	CMK	blood:	n/a
21	chr14:68171536-68171586	HEEpiC	esophagus:	n/a
22	chr14:68171536-68171586	K562	blood:	n/a
23	chr14:68171536-68171586	SK-N-SH_RA	brain:	n/a
24	chr14:68171536-68171586	NT2-D1	testis:	n/a
25	chr14:68171536-68171586	HIPEpiC	eye:	n/a
26	chr14:68171536-68171586	HepG2	liver:	n/a
27	chr14:68171536-68171586	AG09319	gingival:	n/a
28	chr14:68171536-68171586	U87	brain:	n/a
29	chr14:68171536-68171586	AG04449	skin:	fetal
30	chr14:68171536-68171586	NB4	blood:	n/a
31	chr14:68171536-68171586	HNPCEpiC	eye:	n/a
32	chr14:68171536-68171586	SK-N-MC	brain:	n/a
33	chr14:68171536-68171586	HMEC	breast:	n/a
34	chr14:68171536-68171586	Jurkat	blood:	n/a
35	chr14:68171536-68171586	HRPEpiC	eye:	n/a
36	chr14:68171536-68171586	HRCEpiC	kidney:	n/a
37	chr14:68171536-68171586	BJ	skin:	n/a
38	chr14:68171536-68171586	MCF-7	breast:	n/a
39	chr14:68171536-68171586	AG04450	lung:	fetal
40	chr14:68171536-68171586	HCT-116	colon:	n/a
41	chr14:68171536-68171586	HCF	heart:	n/a
42	chr14:68171536-68171586	SKMC	muscle:	n/a
43	chr14:68171536-68171586	NHBE	bronchial:	n/a
44	chr14:68171536-68171586	HAEpiC	amniotic membrane:	n/a
45	chr14:68171536-68171586	RPTEC	kidney:	n/a
46	chr14:68171536-68171586	MCF10A-Er-Src	breast:	n/a
47	chr14:68171536-68171586	H1-hESC	embryonic stem cell:	embryo
48	chr14:68171536-68171586	GM12878	blood:	n/a
49	chr14:68171536-68171586	HCM	heart:	n/a
50	chr14:68171536-68171586	AG09309	skin:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67993411..67993949-chr14:68170946..68171642,2	MCF-7	breast:
2	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
3	chr14:68050450..68051460-chr14:68170491..68171891,10	K562	blood:
4	chr14:68171220..68171774-chr14:68232579..68233209,2	MCF-7	breast:
5	chr14:68050285..68051265-chr14:68171010..68171830,2	MCF-7	breast:
6	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
7	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:
8	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
9	chr14:68161792..68164356-chr14:68169236..68171815,2	MCF-7	breast:
10	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:
11	chr14:68083632..68084176-chr14:68170942..68171834,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL369P	TF binding region
RN7SL369P	CpG island
ENSG00000201529	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv976349	chr14:68171328-68181608	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68170400-68172000	Enhancers	Liver	Liver
3	chr14:68171000-68171800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:68171000-68172000	Enhancers	Stomach Mucosa	stomach
5	chr14:68171000-68172400	Enhancers	A549	lung
6	chr14:68171200-68171600	Enhancers	Duodenum Mucosa	Duodenum
7	chr14:68171200-68171800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:68171200-68171800	Enhancers	HepG2	liver
9	chr14:68171200-68171800	Enhancers	K562	blood
10	chr14:68171200-68172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:68171200-68172000	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr14:68171200-68172200	Enhancers	Brain Hippocampus Middle	brain
13	chr14:68171200-68172200	Enhancers	HMEC	breast
14	chr14:68171200-68172400	Enhancers	Brain Anterior Caudate	brain
15	chr14:68171200-68172400	Enhancers	Hela-S3	cervix
16	chr14:68171400-68171600	Enhancers	Aorta	Aorta
17	chr14:68171400-68171600	Active TSS	Brain Angular Gyrus	brain
18	chr14:68171400-68171600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr14:68171400-68171600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:68171400-68171800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:68171400-68171800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:68171400-68172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:68171400-68172200	Enhancers	NHEK	skin

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