Variant report

Variant	rs10872918
Chromosome Location	chr14:39702975-39702976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39702781-39703392	HepG2	liver:	n/a	n/a
2	FOXA1	chr14:39702828-39703473	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:39702017-39703452	HepG2	liver:	n/a	n/a
4	HEY1	chr14:39702815-39703431	HepG2	liver:	n/a	n/a
5	HEY1	chr14:39702858-39703214	HepG2	liver:	n/a	n/a
6	MAFK	chr14:39702446-39703541	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:39702826-39703471	HepG2	liver:	n/a	n/a
8	MAFF	chr14:39702916-39703495	HepG2	liver:	n/a	n/a
9	TBP	chr14:39702413-39703362	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:39702816-39703314	HepG2	liver:	n/a	n/a
11	MBD4	chr14:39701854-39703465	HepG2	liver:	n/a	n/a
12	EP300	chr14:39702852-39703580	HepG2	liver:	n/a	n/a
13	FOXA2	chr14:39702865-39703486	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:39702891-39703225	HepG2	liver:	n/a	n/a
15	MYBL2	chr14:39701844-39703767	HepG2	liver:	n/a	n/a
16	MAX	chr14:39701875-39703653	HepG2	liver:	n/a	n/a
17	NFIC	chr14:39702696-39703500	HepG2	liver:	n/a	n/a
18	MAFK	chr14:39702912-39703520	HepG2	liver:	n/a	n/a
19	ARID3A	chr14:39701927-39703977	HepG2	liver:	n/a	n/a
20	MYBL2	chr14:39701809-39703652	HepG2	liver:	n/a	n/a
21	HDAC2	chr14:39702809-39703534	HepG2	liver:	n/a	n/a
22	TEAD4	chr14:39701793-39703698	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39702965-39703015	IMR90	lung:	fetal
2	chr14:39702965-39703015	HL-60	blood:	n/a
3	chr14:39702965-39703015	HRPEpiC	eye:	n/a
4	chr14:39702965-39703015	GM12891	blood:	n/a
5	chr14:39702965-39703015	NH-A	brain:	n/a
6	chr14:39702965-39703015	SK-N-SH	brain:	n/a
7	chr14:39702965-39703015	GM06990	blood:	n/a
8	chr14:39702965-39703015	HRE	kidney:	n/a
9	chr14:39702965-39703015	PFSK-1	brain:	n/a
10	chr14:39702965-39703015	SK-N-MC	brain:	n/a
11	chr14:39702965-39703015	HCM	heart:	n/a
12	chr14:39702965-39703015	SAEC	small airway:	n/a
13	chr14:39702965-39703015	GM12892	blood:	n/a
14	chr14:39702965-39703015	MCF-7	breast:	n/a
15	chr14:39702965-39703015	HIPEpiC	eye:	n/a
16	chr14:39702965-39703015	HRCEpiC	kidney:	n/a
17	chr14:39702965-39703015	SK-N-SH_RA	brain:	n/a
18	chr14:39702965-39703015	ProgFib	skin:	n/a
19	chr14:39702965-39703015	ovcar-3	ovarian:	n/a
20	chr14:39702965-39703015	AG04450	lung:	fetal
21	chr14:39702965-39703015	HEK293	kidney:	embryo
22	chr14:39702965-39703015	H1-hESC	embryonic stem cell:	embryo
23	chr14:39702965-39703015	T-47D	breast:	n/a
24	chr14:39702965-39703015	HCT-116	colon:	n/a
25	chr14:39702965-39703015	BE2_C	brain:	n/a
26	chr14:39702965-39703015	NB4	blood:	n/a
27	chr14:39702965-39703015	LNCaP	prostate:	n/a
28	chr14:39702965-39703015	A549	lung:	n/a
29	chr14:39702965-39703015	CMK	blood:	n/a
30	chr14:39702965-39703015	AG10803	skin:	n/a
31	chr14:39702965-39703015	BJ	skin:	n/a
32	chr14:39702965-39703015	HCF	heart:	n/a
33	chr14:39702965-39703015	Jurkat	blood:	n/a
34	chr14:39702965-39703015	NT2-D1	testis:	n/a
35	chr14:39702965-39703015	Caco-2	colon:	n/a
36	chr14:39702965-39703015	ECC-1	luminal epithelium:	n/a
37	chr14:39702965-39703015	NHDF-neo	bronchial:	n/a
38	chr14:39702965-39703015	RPTEC	kidney:	n/a
39	chr14:39702965-39703015	GM19239	blood:	n/a
40	chr14:39702965-39703015	HUVEC	blood vessel:	n/a
41	chr14:39702965-39703015	PrEC	prostate:	n/a
42	chr14:39702965-39703015	HCPEpiC	choroid plexus:	n/a
43	chr14:39702965-39703015	AG09309	skin:	n/a
44	chr14:39702965-39703015	PANC-1	pancreas:	n/a
45	chr14:39702965-39703015	HepG2	liver:	n/a
46	chr14:39702965-39703015	U87	brain:	n/a
47	chr14:39702965-39703015	HEEpiC	esophagus:	n/a
48	chr14:39702965-39703015	Hela-S3	cervix:	n/a
49	chr14:39702965-39703015	SKMC	muscle:	n/a
50	chr14:39702965-39703015	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258941	TF binding region
MIA2	TF binding region
MIA2	CpG island
ENSG00000258941	CpG island
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10136852	0.86[CHB][hapmap]
rs10145517	0.82[JPT][hapmap]
rs10145518	0.86[CHB][hapmap]
rs10149896	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11626768	0.90[ASN][1000 genomes]
rs12881284	0.96[ASN][1000 genomes]
rs17109068	0.80[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17109118	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17693410	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2274397	0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4393482	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4899200	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs61998537	0.83[ASN][1000 genomes]
rs61998549	0.83[ASN][1000 genomes]
rs61998551	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61998552	0.85[ASN][1000 genomes]
rs61998554	0.85[ASN][1000 genomes]
rs61998555	0.81[ASN][1000 genomes]
rs6571908	0.90[ASN][1000 genomes]
rs6571909	0.83[ASN][1000 genomes]
rs6571920	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7141921	0.80[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.83[ASN][1000 genomes]
rs7148572	0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs715135	0.90[ASN][1000 genomes]
rs8017650	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8018486	0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs8019758	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv84871	chr14:39698400-39707997	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39699400-39703200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:39701000-39703000	Enhancers	Fetal Intestine Large	intestine
4	chr14:39702000-39703200	Enhancers	Stomach Mucosa	stomach
5	chr14:39702000-39703400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:39702000-39703400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:39702000-39703600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:39702000-39703600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:39702000-39704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:39702200-39703000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:39702200-39703200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr14:39702200-39703400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:39702200-39703400	Enhancers	HSMMtube	muscle
14	chr14:39702200-39703600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:39702200-39703600	Flanking Active TSS	A549	lung
16	chr14:39702400-39703000	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:39702400-39703000	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr14:39702400-39703200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:39702400-39703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:39702400-39703400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:39702400-39704000	Enhancers	HMEC	breast
22	chr14:39702600-39703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:39702600-39703000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:39702600-39703000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:39702600-39703000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr14:39702600-39703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39702600-39703200	Weak transcription	NHEK	skin
28	chr14:39702600-39703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:39702600-39703600	Enhancers	Osteobl	bone
30	chr14:39702600-39704000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:39702800-39703000	Weak transcription	Fetal Intestine Small	intestine
32	chr14:39702800-39703200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:39702800-39703200	Weak transcription	GM12878-XiMat	blood
34	chr14:39702800-39705200	Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links