Variant report

Variant	rs72718208
Chromosome Location	chr14:69441925-69441926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
2	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
3	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
4	POLR2A	chr14:69441451-69441943	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:69441665-69442047	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:69441293-69442157	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:69441592-69445621	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr14:69441505-69441951	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
10	POLR2A	chr14:69441164-69443163	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69441902-69441952	U87	brain:	n/a
2	chr14:69441902-69441952	HUVEC	blood vessel:	n/a
3	chr14:69441902-69441952	H1-hESC	embryonic stem cell:	embryo
4	chr14:69441902-69441952	AG10803	skin:	n/a
5	chr14:69441902-69441952	Caco-2	colon:	n/a
6	chr14:69441902-69441952	ProgFib	skin:	n/a
7	chr14:69441902-69441952	Jurkat	blood:	n/a
8	chr14:69441902-69441952	ovcar-3	ovarian:	n/a
9	chr14:69441902-69441952	NHDF-neo	bronchial:	n/a
10	chr14:69441902-69441952	BE2_C	brain:	n/a
11	chr14:69441902-69441952	AG04449	skin:	fetal
12	chr14:69441902-69441952	Hela-S3	cervix:	n/a
13	chr14:69441902-69441952	HCF	heart:	n/a
14	chr14:69441902-69441952	HMEC	breast:	n/a
15	chr14:69441902-69441952	HepG2	liver:	n/a
16	chr14:69441902-69441952	K562	blood:	n/a
17	chr14:69441902-69441952	IMR90	lung:	fetal
18	chr14:69441902-69441952	HEEpiC	esophagus:	n/a
19	chr14:69441902-69441952	SK-N-SH_RA	brain:	n/a
20	chr14:69441902-69441952	SK-N-SH	brain:	n/a
21	chr14:69441902-69441952	SK-N-MC	brain:	n/a
22	chr14:69441902-69441952	AG09309	skin:	n/a
23	chr14:69441902-69441952	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:69441902-69441952	CMK	blood:	n/a
25	chr14:69441902-69441952	HAEpiC	amniotic membrane:	n/a
26	chr14:69441902-69441952	RPTEC	kidney:	n/a
27	chr14:69441902-69441952	HNPCEpiC	eye:	n/a
28	chr14:69441902-69441952	GM12878	blood:	n/a
29	chr14:69441902-69441952	NHBE	bronchial:	n/a
30	chr14:69441902-69441952	HEK293	kidney:	embryo
31	chr14:69441902-69441952	AG09319	gingival:	n/a
32	chr14:69441902-69441952	HRE	kidney:	n/a
33	chr14:69441902-69441952	MCF10A-Er-Src	breast:	n/a
34	chr14:69441902-69441952	AoSMC	blood vessel:	n/a
35	chr14:69441902-69441952	SKMC	muscle:	n/a
36	chr14:69441902-69441952	HCT-116	colon:	n/a
37	chr14:69441902-69441952	Hepatocyte	liver:	n/a
38	chr14:69441902-69441952	LNCaP	prostate:	n/a
39	chr14:69441902-69441952	HRCEpiC	kidney:	n/a
40	chr14:69441902-69441952	PFSK-1	brain:	n/a
41	chr14:69441902-69441952	HCM	heart:	n/a
42	chr14:69441902-69441952	GM19239	blood:	n/a
43	chr14:69441902-69441952	NB4	blood:	n/a
44	chr14:69441902-69441952	HRPEpiC	eye:	n/a
45	chr14:69441902-69441952	GM06990	blood:	n/a
46	chr14:69441902-69441952	A549	lung:	n/a
47	chr14:69441902-69441952	GM12891	blood:	n/a
48	chr14:69441902-69441952	GM12892	blood:	n/a
49	chr14:69441902-69441952	SAEC	small airway:	n/a
50	chr14:69441902-69441952	HCPEpiC	choroid plexus:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr14:69441561..69443821-chr6:122931001..122932824,2	MCF-7	breast:
3	chr14:69377936..69380482-chr14:69440340..69442074,2	MCF-7	breast:
4	chr14:69441449..69443783-chr14:69546294..69548091,2	K562	blood:
5	chr14:69441719..69443220-chr14:69520758..69522938,2	MCF-7	breast:
6	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ACTN1-AS1	CpG island
ENSG00000135549	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000072110	Chromatin interaction

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

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

rs_ID	r²[population]
rs12895271	1.00[AFR][1000 genomes]
rs72718203	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718263	1.00[ASN][1000 genomes]
rs72718270	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
4	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:69433200-69442000	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr14:69434400-69442400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:69436200-69442600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:69436600-69442000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:69437000-69443000	Weak transcription	Fetal Brain Male	brain
16	chr14:69437200-69442000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:69437400-69442200	Genic enhancers	HUVEC	blood vessel
18	chr14:69437800-69443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:69438200-69442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:69438200-69442600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:69438200-69442600	Weak transcription	Fetal Kidney	kidney
22	chr14:69438200-69443200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:69438400-69442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:69438600-69442000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:69438600-69443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:69438800-69442800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr14:69438800-69443000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69438800-69443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:69438800-69444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:69439000-69443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:69439200-69442000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:69439200-69442200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr14:69439400-69442800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:69439400-69442800	Genic enhancers	Fetal Intestine Large	intestine
37	chr14:69439400-69443400	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr14:69439600-69442000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69439600-69442000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:69439800-69442200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:69440200-69442000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:69440400-69442000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:69440400-69442000	Genic enhancers	Aorta	Aorta
44	chr14:69440400-69442000	Genic enhancers	Esophagus	oesophagus
45	chr14:69440400-69442200	Genic enhancers	NHDF-Ad	bronchial
46	chr14:69440400-69442600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:69440400-69442800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:69440400-69443400	Transcr. at gene 5' and 3'	NHLF	lung
49	chr14:69440600-69442000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:69440600-69443000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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