Variant report

Variant	rs4902498
Chromosome Location	chr14:68065989-68065990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
2	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:
3	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
4	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
5	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
6	chr14:68065024..68066751-chr14:68160977..68163130,3	K562	blood:
7	chr14:68052079..68053763-chr14:68065280..68066980,2	K562	blood:
8	chr14:68036651..68038481-chr14:68063645..68066498,2	MCF-7	breast:
9	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201529	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11547225	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236232	0.84[EUR][1000 genomes]
rs36113087	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902489	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902493	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902495	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152499	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902498	PIGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
2	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
3	chr14:68053200-68066000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:68053600-68066000	Weak transcription	HUVEC	blood vessel
5	chr14:68054800-68066000	Weak transcription	HSMM	muscle
6	chr14:68054800-68066000	Weak transcription	NHLF	lung
7	chr14:68055600-68066200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:68055600-68066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:68055600-68066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:68057600-68066000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:68057600-68066200	Weak transcription	Esophagus	oesophagus
12	chr14:68057600-68066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:68058600-68066000	Weak transcription	Psoas Muscle	Psoas
14	chr14:68059200-68066000	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:68059200-68066200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:68059200-68066200	Weak transcription	Gastric	stomach
17	chr14:68059200-68066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:68059400-68066200	Weak transcription	Pancreas	Pancrea
19	chr14:68059400-68066200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:68059600-68066000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:68060200-68066200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:68060200-68066400	Weak transcription	Spleen	Spleen
23	chr14:68060400-68066200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:68060400-68066200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:68060600-68066000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:68061000-68066200	Weak transcription	Placenta	Placenta
27	chr14:68061000-68066400	Weak transcription	Lung	lung
28	chr14:68061200-68066000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:68061200-68066200	Weak transcription	Left Ventricle	heart
30	chr14:68062600-68066000	Weak transcription	Aorta	Aorta
31	chr14:68062600-68066000	Weak transcription	Fetal Stomach	stomach
32	chr14:68063200-68066000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:68063400-68066000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:68064600-68066000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:68064800-68066000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:68064800-68066000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:68064800-68066200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:68064800-68066200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:68064800-68067200	Active TSS	GM12878-XiMat	blood
40	chr14:68065000-68066000	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:68065000-68066000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr14:68065000-68066000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:68065200-68066000	Enhancers	Primary B cells from cord blood	blood
44	chr14:68065200-68066400	Weak transcription	Small Intestine	intestine
45	chr14:68065400-68066000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:68065400-68066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:68065400-68067400	Active TSS	K562	blood
48	chr14:68065600-68066000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:68065600-68066000	Enhancers	Adipose Nuclei	Adipose
50	chr14:68065600-68066000	Enhancers	Fetal Brain Female	brain

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