Variant report

Variant	rs61450523
Chromosome Location	chr14:21570274-21570275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:21570243-21571035	K562	blood:	n/a	n/a
2	MAX	chr14:21569925-21570434	K562	blood:	n/a	n/a
3	MAFF	chr14:21570273-21570431	K562	blood:	n/a	n/a
4	ATF3	chr14:21570177-21570468	K562	blood:	n/a	n/a
5	TEAD4	chr14:21570172-21570577	K562	blood:	n/a	n/a
6	FOSL1	chr14:21570171-21570589	K562	blood:	n/a	chr14:21570368-21570379
7	EGR1	chr14:21570153-21570469	K562	blood:	n/a	n/a
8	FOS	chr14:21570224-21570549	MCF10A-Er-Src	breast:	n/a	chr14:21570368-21570379
9	FOS	chr14:21570207-21570546	MCF10A-Er-Src	breast:	n/a	chr14:21570368-21570379
10	FOS	chr14:21570237-21570532	MCF10A-Er-Src	breast:	n/a	chr14:21570368-21570379
11	MYC	chr14:21570217-21570395	K562	blood:	n/a	n/a
12	FOS	chr14:21570220-21570532	MCF10A-Er-Src	breast:	n/a	chr14:21570368-21570379
13	JUND	chr14:21570193-21570976	K562	blood:	n/a	chr14:21570368-21570379
14	EGR1	chr14:21570128-21570438	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21570256-21570306	SK-N-SH_RA	brain:	n/a
2	chr14:21570256-21570306	NB4	blood:	n/a
3	chr14:21570256-21570306	HRCEpiC	kidney:	n/a
4	chr14:21570256-21570306	AG09319	gingival:	n/a
5	chr14:21570256-21570306	PrEC	prostate:	n/a
6	chr14:21570256-21570306	PFSK-1	brain:	n/a
7	chr14:21570256-21570306	AG09309	skin:	n/a
8	chr14:21570256-21570306	HNPCEpiC	eye:	n/a
9	chr14:21570256-21570306	HMEC	breast:	n/a
10	chr14:21570256-21570306	HAEpiC	amniotic membrane:	n/a
11	chr14:21570256-21570306	GM12892	blood:	n/a
12	chr14:21570256-21570306	U87	brain:	n/a
13	chr14:21570256-21570306	HIPEpiC	eye:	n/a
14	chr14:21570256-21570306	T-47D	breast:	n/a
15	chr14:21570256-21570306	ProgFib	skin:	n/a
16	chr14:21570256-21570306	NH-A	brain:	n/a
17	chr14:21570256-21570306	HEEpiC	esophagus:	n/a
18	chr14:21570256-21570306	AG04450	lung:	fetal
19	chr14:21570256-21570306	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:21570256-21570306	CMK	blood:	n/a
21	chr14:21570256-21570306	NHBE	bronchial:	n/a
22	chr14:21570256-21570306	RPTEC	kidney:	n/a
23	chr14:21570256-21570306	Hela-S3	cervix:	n/a
24	chr14:21570256-21570306	AG04449	skin:	fetal
25	chr14:21570256-21570306	HCT-116	colon:	n/a
26	chr14:21570256-21570306	MCF-7	breast:	n/a
27	chr14:21570256-21570306	MCF10A-Er-Src	breast:	n/a
28	chr14:21570256-21570306	HCM	heart:	n/a
29	chr14:21570256-21570306	Caco-2	colon:	n/a
30	chr14:21570256-21570306	HRE	kidney:	n/a
31	chr14:21570256-21570306	HCF	heart:	n/a
32	chr14:21570256-21570306	AoSMC	blood vessel:	n/a
33	chr14:21570256-21570306	HEK293	kidney:	embryo
34	chr14:21570256-21570306	H1-hESC	embryonic stem cell:	embryo
35	chr14:21570256-21570306	GM19239	blood:	n/a
36	chr14:21570256-21570306	SKMC	muscle:	n/a
37	chr14:21570256-21570306	SAEC	small airway:	n/a
38	chr14:21570256-21570306	NT2-D1	testis:	n/a
39	chr14:21570256-21570306	GM12891	blood:	n/a
40	chr14:21570256-21570306	GM06990	blood:	n/a
41	chr14:21570256-21570306	HUVEC	blood vessel:	n/a
42	chr14:21570256-21570306	ovcar-3	ovarian:	n/a
43	chr14:21570256-21570306	Jurkat	blood:	n/a
44	chr14:21570256-21570306	ECC-1	luminal epithelium:	n/a
45	chr14:21570256-21570306	Hepatocyte	liver:	n/a
46	chr14:21570256-21570306	HepG2	liver:	n/a
47	chr14:21570256-21570306	BJ	skin:	n/a
48	chr14:21570256-21570306	IMR90	lung:	fetal
49	chr14:21570256-21570306	LNCaP	prostate:	n/a
50	chr14:21570256-21570306	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:21557595..21561276-chr14:21569876..21572764,3	K562	blood:
2	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
3	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
4	chr14:21541693..21544085-chr14:21569593..21572197,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDRG2-5	chr14:21569863-21572375	NONHSAT035657

No data

Variant related genes	Relation type
ZNF219	TF binding region
TMEM253	TF binding region
ZNF219	CpG island
TMEM253	CpG island
ENSG00000165801	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000258714	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12887490	0.81[ASN][1000 genomes]
rs12889457	0.82[ASN][1000 genomes]
rs4982410	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151225	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21566000-21570400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:21567400-21571400	Weak transcription	Small Intestine	intestine
3	chr14:21567400-21571400	Enhancers	Stomach Mucosa	stomach
4	chr14:21567400-21571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:21567600-21570800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:21567600-21571400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:21567800-21570600	Weak transcription	Lung	lung
8	chr14:21567800-21570600	Weak transcription	Spleen	Spleen
9	chr14:21567800-21570600	Enhancers	HepG2	liver
10	chr14:21567800-21570800	Weak transcription	Liver	Liver
11	chr14:21567800-21571000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:21567800-21571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:21567800-21571200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:21567800-21571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:21567800-21571200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:21567800-21571400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:21567800-21571400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:21567800-21571400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:21567800-21571400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:21567800-21571400	Enhancers	Esophagus	oesophagus
23	chr14:21567800-21571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:21567800-21571400	Weak transcription	Left Ventricle	heart
25	chr14:21567800-21571400	Weak transcription	Psoas Muscle	Psoas
26	chr14:21567800-21571400	Weak transcription	Right Ventricle	heart
27	chr14:21567800-21571600	Weak transcription	Aorta	Aorta
28	chr14:21567800-21571600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:21567800-21572000	Weak transcription	Ovary	ovary
30	chr14:21568000-21570400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:21568000-21570400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:21568000-21570400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:21568000-21570600	Weak transcription	Brain Angular Gyrus	brain
34	chr14:21568000-21570600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:21568000-21570600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:21568000-21570600	Weak transcription	Fetal Lung	lung
37	chr14:21568000-21570800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:21568000-21570800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:21568000-21570800	Weak transcription	Fetal Brain Female	brain
40	chr14:21568000-21570800	Weak transcription	Fetal Stomach	stomach
41	chr14:21568000-21571000	Weak transcription	Placenta	Placenta
42	chr14:21568000-21571200	Weak transcription	Brain Substantia Nigra	brain
43	chr14:21568000-21571200	Weak transcription	Fetal Brain Male	brain
44	chr14:21568000-21571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:21568000-21571400	Weak transcription	Right Atrium	heart
46	chr14:21568200-21570400	Enhancers	HMEC	breast
47	chr14:21568200-21570400	Weak transcription	NHDF-Ad	bronchial
48	chr14:21568200-21570600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:21568200-21570600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:21568200-21570600	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links