Variant report

Variant	rs3850260
Chromosome Location	chr14:36788085-36788086
allele	A/G
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	FOXA1	chr14:36787936-36788446	HepG2	liver:	n/a	chr14:36788431-36788443
2	STAT3	chr14:36787962-36788095	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr14:36788067-36788313	HepG2	liver:	n/a	n/a
4	FOS	chr14:36787986-36788244	MCF10A-Er-Src	breast:	n/a	n/a
5	ARID3A	chr14:36787931-36788470	HepG2	liver:	n/a	n/a
6	FOS	chr14:36787813-36788245	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:36780477..36782487-chr14:36786743..36788959,2	MCF-7	breast:
2	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
3	chr14:36768912..36770474-chr14:36787292..36789766,2	MCF-7	breast:

Variant related genes	Relation type
MBIP	TF binding region
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10133125	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156909	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558802	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11844502	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890888	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12897795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535722	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2415332	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2415334	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2415335	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415339	0.83[EUR][1000 genomes]
rs2553575	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899849	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3168891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3762904	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805353	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805355	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842844	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3844012	0.81[EUR][1000 genomes]
rs3844013	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850258	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850259	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850267	0.95[EUR][1000 genomes]
rs3850268	0.95[EUR][1000 genomes]
rs3861477	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861481	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3909608	0.95[EUR][1000 genomes]
rs3909615	0.91[EUR][1000 genomes]
rs4083518	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4127807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378535	0.88[EUR][1000 genomes]
rs4898561	0.91[EUR][1000 genomes]
rs4898563	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898598	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900716	0.91[EUR][1000 genomes]
rs4900717	0.91[EUR][1000 genomes]
rs4900732	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900733	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900790	0.91[EUR][1000 genomes]
rs4900833	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4900924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901456	1.00[EUR][1000 genomes]
rs4901597	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140630	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142835	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146921	0.81[EUR][1000 genomes]
rs7154340	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155498	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7159366	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013261	0.86[EUR][1000 genomes]
rs9788479	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
12	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv518747	chr14:36787226-36809926	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
4	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
5	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
6	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
7	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
8	chr14:36780400-36788800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
11	chr14:36780600-36788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:36780600-36788400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:36780600-36788400	Weak transcription	Fetal Stomach	stomach
14	chr14:36780600-36788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:36780600-36788600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:36780800-36788600	Weak transcription	Thymus	Thymus
20	chr14:36781000-36788400	Weak transcription	Fetal Kidney	kidney
21	chr14:36781000-36788400	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:36781000-36788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:36781000-36788600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:36781000-36788600	Weak transcription	Aorta	Aorta
25	chr14:36781000-36788600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:36781000-36788600	Weak transcription	Ovary	ovary
27	chr14:36781000-36788600	Weak transcription	Psoas Muscle	Psoas
28	chr14:36781000-36788600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:36781000-36788600	Weak transcription	HSMMtube	muscle
30	chr14:36781000-36788800	Weak transcription	Right Ventricle	heart
31	chr14:36781000-36789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:36781000-36789200	Weak transcription	Gastric	stomach
33	chr14:36781000-36789200	Weak transcription	Left Ventricle	heart
34	chr14:36781000-36789200	Weak transcription	Lung	lung
35	chr14:36781000-36789200	Weak transcription	Pancreas	Pancrea
36	chr14:36781200-36788400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:36781200-36788600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:36781200-36788600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:36783000-36788200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:36783000-36788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:36783200-36788200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr14:36783200-36788600	Weak transcription	Primary B cells from cord blood	blood
43	chr14:36783200-36788800	Weak transcription	Placenta	Placenta
44	chr14:36783400-36788200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:36783400-36788600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:36783400-36788800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:36783400-36788800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:36783600-36788800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:36783800-36788800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:36784000-36788400	Weak transcription	Primary hematopoietic stem cells	blood

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