Variant report

Variant	rs1950505
Chromosome Location	chr14:24779594-24779595
allele	A/C
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:5)
LncRNA
region (count:1)
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	STAT3	chr14:24779097-24779598	MCF10A-Er-Src	breast:	n/a	chr14:24779127-24779139 chr14:24779225-24779236 chr14:24779290-24779302
2	POLR2A	chr14:24778201-24781400	GM12892	blood:	n/a	n/a
3	MTA3	chr14:24779392-24780643	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24778985-24781506	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:24778183-24780646	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:24779256-24781544	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:24779538-24781427	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:24778585-24781440	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:24779141-24779682	MCF10A-Er-Src	breast:	n/a	n/a
10	ELF1	chr14:24779570-24781005	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:24779460-24781524	HL-60	blood:	n/a	n/a
12	POLR2A	chr14:24779543-24780765	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:24778328-24781399	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:24779557-24780799	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:24778743-24780915	GM12892	blood:	n/a	n/a
16	MXI1	chr14:24779279-24780662	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24779448..24783163-chr14:24897934..24900807,3	MCF-7	breast:
2	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
3	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
4	chr14:24778683..24780646-chr14:24900996..24904566,3	K562	blood:
5	chr14:24778484..24781723-chr14:24903121..24905574,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCY4-3	chr14:24779293-24779754	NONHSAT036045

No data

Variant related genes	Relation type
LTB4R	TF binding region
CIDEB	TF binding region
ENSG00000196943	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000092330	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10138762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144194	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146996	0.82[JPT][hapmap]
rs1053648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587807	0.96[ASN][1000 genomes]
rs12891891	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896458	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144492	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2180197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281472	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2295303	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332232	0.81[ASN][1000 genomes]
rs3181382	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4247000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4247001	1.00[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573678	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs941506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:24771600-24780400	Strong transcription	Dnd41	blood
5	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:24775800-24782200	Weak transcription	HSMMtube	muscle
7	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:24776000-24779800	Weak transcription	HSMM	muscle
9	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:24776600-24779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:24777000-24779800	Genic enhancers	Placenta	Placenta
14	chr14:24777200-24779600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:24777200-24779600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:24777200-24779600	Genic enhancers	Fetal Intestine Small	intestine
17	chr14:24777200-24779600	Enhancers	Pancreas	Pancrea
18	chr14:24777200-24779800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr14:24777200-24780000	Enhancers	Fetal Intestine Large	intestine
20	chr14:24777200-24780600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:24777200-24782400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:24777400-24781200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:24777400-24781400	Enhancers	Stomach Mucosa	stomach
24	chr14:24777600-24781400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:24777800-24779800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:24777800-24780000	Genic enhancers	HepG2	liver
27	chr14:24777800-24782000	Weak transcription	K562	blood
28	chr14:24777800-24783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:24778000-24779600	Strong transcription	A549	lung
30	chr14:24778400-24782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:24778600-24779600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:24778600-24779600	Enhancers	Right Ventricle	heart
33	chr14:24778600-24779800	Genic enhancers	Fetal Stomach	stomach
34	chr14:24778600-24779800	Enhancers	Gastric	stomach
35	chr14:24778600-24780200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:24778600-24785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr14:24778800-24779600	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:24778800-24779600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:24778800-24779600	Enhancers	Brain Hippocampus Middle	brain
40	chr14:24778800-24779600	Enhancers	Fetal Lung	lung
41	chr14:24778800-24779600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr14:24778800-24779600	Flanking Active TSS	Hela-S3	cervix
43	chr14:24778800-24779800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:24778800-24779800	Enhancers	Left Ventricle	heart
45	chr14:24778800-24779800	Enhancers	Lung	lung
46	chr14:24778800-24780000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr14:24778800-24780200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:24778800-24780200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr14:24778800-24780200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:24778800-24780800	Flanking Active TSS	HMEC	breast

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