Variant report

Variant	rs4981093
Chromosome Location	chr14:31827140-31827141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31819147..31821275-chr14:31824530..31827299,2	K562	blood:
2	chr14:31826783..31829136-chr14:31888128..31890076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10130574	0.95[EUR][1000 genomes]
rs10132752	0.95[EUR][1000 genomes]
rs10134212	1.00[EUR][1000 genomes]
rs10145767	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147468	0.95[EUR][1000 genomes]
rs10149123	1.00[EUR][1000 genomes]
rs11156668	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11844036	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850326	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12586712	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12885363	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12886557	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097814	0.95[EUR][1000 genomes]
rs2094131	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2182256	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2378851	0.86[EUR][1000 genomes]
rs2378852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378853	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2378857	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28396248	0.95[EUR][1000 genomes]
rs28505754	0.95[EUR][1000 genomes]
rs28738723	0.95[EUR][1000 genomes]
rs28791187	1.00[EUR][1000 genomes]
rs3736918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3887865	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4595710	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981838	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981840	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5025288	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571408	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7148963	0.85[ASN][1000 genomes]
rs7149420	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7151378	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156569	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158257	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7159084	0.86[EUR][1000 genomes]
rs7160175	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161078	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8005648	0.82[ASN][1000 genomes]
rs8007411	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8008358	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8012940	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8016487	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs942907	0.88[AMR][1000 genomes];1.00[EUR][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv974471	chr14:31825981-31830623	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
5	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
8	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
15	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:31803800-31843600	Weak transcription	A549	lung
18	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31806400-31829200	Strong transcription	Placenta	Placenta
22	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:31810200-31827800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
27	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
28	chr14:31813200-31829800	Weak transcription	HMEC	breast
29	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:31813400-31827200	Weak transcription	HSMMtube	muscle
31	chr14:31814400-31827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:31815200-31839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:31816200-31837200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:31817000-31827200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:31817000-31827400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:31817000-31837400	Weak transcription	Primary T cells from cord blood	blood
39	chr14:31817200-31827400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:31817200-31827600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:31817800-31827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:31818200-31827200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:31819600-31828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:31822000-31830200	Weak transcription	NH-A	brain
45	chr14:31824600-31846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:31825200-31830200	Strong transcription	HSMM	muscle
47	chr14:31825400-31833400	Weak transcription	Thymus	Thymus
48	chr14:31825400-31840800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:31825400-31847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:31825600-31828800	Weak transcription	Dnd41	blood

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