Variant report

Variant	rs7148530
Chromosome Location	chr14:71570904-71570905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:71570582-71571003	GM12878	blood:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
2	CTCF	chr14:71570652-71570904	Lung_OC	lung:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
3	GATA3	chr14:71570650-71570936	T-47D	breast:	n/a	n/a
4	RAD21	chr14:71570597-71571029	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:71570548-71571002	A549	lung:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
6	RAD21	chr14:71570547-71571043	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:71570674-71570904	GM10266	blood:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
8	SMC3	chr14:71570615-71570969	K562	blood:	n/a	chr14:71570775-71570789
9	CTCF	chr14:71570820-71570970	A549	lung:	n/a	n/a
10	CTCF	chr14:71570661-71570910	K562	blood:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
11	CTCF	chr14:71570643-71570930	Hela-S3	cervix:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
12	CTCF	chr14:71570630-71570956	HUVEC	blood vessel:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
13	RAD21	chr14:71570599-71571063	MCF-7	breast:	n/a	n/a
14	FOXA1	chr14:71570642-71570954	HepG2	liver:	n/a	n/a
15	SMC3	chr14:71570590-71570978	HepG2	liver:	n/a	chr14:71570775-71570789
16	RAD21	chr14:71570557-71571003	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF143	chr14:71570638-71570934	K562	blood:	n/a	n/a
18	RAD21	chr14:71570544-71570989	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:71570800-71570950	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr14:71570672-71570908	MCF-7	breast:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
21	RAD21	chr14:71570659-71570951	GM12878	blood:	n/a	n/a
22	RAD21	chr14:71570614-71570996	GM12878	blood:	n/a	n/a
23	CTCF	chr14:71570551-71571033	MCF-7	breast:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
24	SMC3	chr14:71570257-71571136	SK-N-SH	brain:	n/a	chr14:71570775-71570789
25	CTCF	chr14:71570501-71571036	MCF-7	breast:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
26	CTCF	chr14:71570633-71570974	HepG2	liver:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
27	RAD21	chr14:71570599-71570907	K562	blood:	n/a	n/a
28	CTCF	chr14:71570393-71571315	A549	lung:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
29	CTCF	chr14:71570679-71570952	A549	lung:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
30	RAD21	chr14:71570600-71571036	A549	lung:	n/a	n/a
31	CTCF	chr14:71570470-71570977	HCT-116	colon:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
32	CTCF	chr14:71570678-71570943	SK-N-SH_RA	brain:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
33	CTCF	chr14:71570880-71571030	A549	lung:	n/a	n/a
34	FOXA1	chr14:71570640-71570917	T-47D	breast:	n/a	n/a
35	STAT3	chr14:71570746-71570935	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr14:71570644-71570924	Spleen_OC	spleen:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
37	JUN	chr14:71570669-71570940	K562	blood:	n/a	n/a
38	CTCF	chr14:71570642-71570906	HepG2	liver:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
39	RAD21	chr14:71570578-71571038	MCF-7	breast:	n/a	n/a
40	RAD21	chr14:71570579-71570985	SK-N-SH_RA	brain:	n/a	n/a
41	RAD21	chr14:71570560-71570974	SK-N-SH_RA	brain:	n/a	n/a
42	RAD21	chr14:71570564-71571096	IMR90	lung:	n/a	n/a
43	ZNF143	chr14:71570661-71570922	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:71570392-71570981	IMR90	lung:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
45	CTCF	chr14:71570647-71570910	Pancreas_OC	pancreas:	n/a	chr14:71570774-71570790 chr14:71570775-71570796 chr14:71570773-71570791
46	GATA3	chr14:71570361-71570999	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr14:71570450-71570958	MCF-7	breast:	n/a	n/a
48	ZNF143	chr14:71570601-71570969	GM12878	blood:	n/a	n/a
49	RAD21	chr14:71570306-71571200	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr14:71570533-71571006	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71179105..71181314-chr14:71570757..71573577,2	K562	blood:
2	chr14:71570776..71571452-chr14:72219467..72220345,2	MCF-7	breast:
3	chr14:71570510..71571060-chr14:71673984..71674688,2	K562	blood:
4	chr14:71570724..71571280-chr14:72321914..72322593,2	K562	blood:
5	chr14:71570663..71571191-chr14:72219553..72220390,2	MCF-7	breast:

Variant related genes	Relation type
PCNX	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10142792	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10147124	0.90[ASN][1000 genomes]
rs10162428	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10220379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11846003	0.87[ASN][1000 genomes]
rs11847244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11849831	0.87[ASN][1000 genomes]
rs12432180	0.84[ASN][1000 genomes]
rs12432587	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12435253	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12436649	0.83[ASN][1000 genomes]
rs12436920	0.89[ASN][1000 genomes]
rs12436970	0.89[ASN][1000 genomes]
rs12436976	0.89[ASN][1000 genomes]
rs12880918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12891445	0.92[ASN][1000 genomes]
rs12895177	0.81[ASN][1000 genomes]
rs12896855	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1468469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17093729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108711	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17108730	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17108753	0.81[ASN][1000 genomes]
rs17108755	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108869	0.86[ASN][1000 genomes]
rs17108873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17108897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17109008	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978163	0.89[ASN][1000 genomes]
rs2051865	0.83[ASN][1000 genomes]
rs2158998	0.92[ASN][1000 genomes]
rs2286312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2286314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2526891	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28371425	0.81[ASN][1000 genomes]
rs34007279	0.83[ASN][1000 genomes]
rs34119685	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34740221	0.83[ASN][1000 genomes]
rs34927411	0.90[ASN][1000 genomes]
rs34968850	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34971726	0.92[ASN][1000 genomes]
rs34998980	0.88[ASN][1000 genomes]
rs35041597	0.81[ASN][1000 genomes]
rs35092982	0.81[ASN][1000 genomes]
rs35127721	0.82[ASN][1000 genomes]
rs35168506	0.81[ASN][1000 genomes]
rs35523654	0.88[ASN][1000 genomes]
rs35714454	0.96[ASN][1000 genomes]
rs35725944	0.83[ASN][1000 genomes]
rs36089307	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4488390	0.83[ASN][1000 genomes]
rs4614662	0.89[ASN][1000 genomes]
rs4902872	0.92[ASN][1000 genomes]
rs4902873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902874	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902877	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4902878	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4902882	0.91[ASN][1000 genomes]
rs4902883	0.89[ASN][1000 genomes]
rs4902884	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs61990447	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71425229	0.81[ASN][1000 genomes]
rs71425386	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147788	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7152435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157279	0.83[ASN][1000 genomes]
rs7158548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73297555	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7492431	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010701	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8015773	0.96[ASN][1000 genomes]
rs917066	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs987579	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9989203	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71538800-71584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71544800-71571800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:71544800-71572000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:71544800-71575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:71544800-71581400	Weak transcription	Small Intestine	intestine
6	chr14:71545400-71572000	Weak transcription	Hela-S3	cervix
7	chr14:71545400-71574800	Weak transcription	NHLF	lung
8	chr14:71552000-71588400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:71552400-71571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:71553600-71575200	Weak transcription	Aorta	Aorta
11	chr14:71553600-71575200	Weak transcription	Right Ventricle	heart
12	chr14:71553600-71575400	Weak transcription	Spleen	Spleen
13	chr14:71556000-71575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:71556000-71582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:71556400-71574800	Weak transcription	Pancreas	Pancrea
16	chr14:71556400-71576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:71556400-71583000	Weak transcription	Brain Substantia Nigra	brain
18	chr14:71557200-71573600	Weak transcription	Fetal Heart	heart
19	chr14:71557200-71576000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:71557200-71582000	Weak transcription	HUVEC	blood vessel
21	chr14:71557400-71575400	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:71557800-71575200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:71558800-71576400	Weak transcription	Fetal Kidney	kidney
24	chr14:71558800-71576600	Weak transcription	Colonic Mucosa	Colon
25	chr14:71559000-71571800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:71559600-71575400	Weak transcription	Brain Germinal Matrix	brain
27	chr14:71559800-71575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:71559800-71575400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:71559800-71584000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:71560000-71571800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:71561600-71574600	Weak transcription	HSMMtube	muscle
32	chr14:71563800-71571200	Weak transcription	Fetal Intestine Small	intestine
33	chr14:71563800-71572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:71563800-71572400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:71564000-71575400	Weak transcription	Fetal Brain Female	brain
36	chr14:71564000-71583600	Weak transcription	Fetal Brain Male	brain
37	chr14:71566600-71582200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:71566600-71582600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:71566800-71572600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:71566800-71582400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:71566800-71583400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:71566800-71585800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:71567200-71578800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr14:71567200-71581600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:71567200-71583800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:71567400-71581600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:71567600-71571000	Strong transcription	HSMM	muscle
48	chr14:71567600-71572000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:71567600-71572400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:71567600-71577800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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