Variant report

Variant	rs17256713
Chromosome Location	chr14:24639699-24639700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr14:24639376-24639725	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24639570-24639743	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24639375-24643075	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:24639429-24641812	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:24639600-24639879	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24639439-24639896	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:24639637-24639891	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:24638137-24643601	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:24639415-24643065	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:24639366-24643007	GM12892	blood:	n/a	n/a
11	POLR2A	chr14:24639650-24639991	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:24639327-24639946	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
2	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
3	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:
4	chr14:24562783..24564737-chr14:24638245..24640098,2	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
ENSG00000092098	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100897	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11547058	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1543518	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17101730	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742502	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs45484197	0.82[ASN][1000 genomes]
rs4981495	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4981496	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4982867	1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72694304	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs743272	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8009671	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8019327	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 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	chr14:24631000-24640600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24631200-24640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:24631600-24640400	Weak transcription	Fetal Brain Male	brain
4	chr14:24631600-24653800	Weak transcription	K562	blood
5	chr14:24632200-24640000	Strong transcription	Thymus	Thymus
6	chr14:24632400-24639800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:24632400-24639800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:24632600-24640400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:24633600-24639800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:24633800-24639800	Strong transcription	Fetal Thymus	thymus
11	chr14:24634400-24639800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:24634400-24639800	Strong transcription	Placenta	Placenta
13	chr14:24634400-24640000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:24634400-24640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:24634600-24640600	Weak transcription	Fetal Kidney	kidney
16	chr14:24634600-24641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:24634800-24640600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:24635200-24640200	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:24635200-24640600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:24635400-24639800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:24635400-24640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:24635400-24640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24635400-24640600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:24635400-24640600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:24635400-24640600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:24635400-24640800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:24635400-24641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:24635400-24647800	Weak transcription	HMEC	breast
30	chr14:24635600-24640600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:24635600-24640800	Weak transcription	Fetal Heart	heart
32	chr14:24635600-24647000	Weak transcription	Dnd41	blood
33	chr14:24636000-24640800	Weak transcription	HUVEC	blood vessel
34	chr14:24636200-24640200	Weak transcription	Brain Germinal Matrix	brain
35	chr14:24636200-24640600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:24636200-24640600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:24636200-24640600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:24636200-24640600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:24636200-24640600	Weak transcription	Fetal Brain Female	brain
40	chr14:24636200-24640800	Weak transcription	NH-A	brain
41	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
42	chr14:24636400-24640200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:24636400-24640200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:24636400-24640600	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:24636400-24640600	Weak transcription	Right Ventricle	heart
46	chr14:24636400-24640800	Weak transcription	Psoas Muscle	Psoas
47	chr14:24636600-24642200	Weak transcription	Hela-S3	cervix
48	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
49	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:24637000-24640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links