Variant report

Variant	rs3805355
Chromosome Location	chr14:36782984-36782985
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	FOS	chr14:36782780-36783018	MCF10A-Er-Src	breast:	n/a	chr14:36782920-36782928 chr14:36782921-36782928 chr14:36782919-36782928 chr14:36782920-36782929
2	CTCF	chr14:36782980-36783130	HepG2	liver:	n/a	n/a
3	FOS	chr14:36782913-36783072	MCF10A-Er-Src	breast:	n/a	chr14:36782920-36782928 chr14:36782921-36782928 chr14:36782919-36782928 chr14:36782920-36782929

No.	Distal block	Cell Line	Cell type
1	chr14:36539398..36539927-chr14:36782854..36783534,2	MCF-7	breast:
2	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
3	chr14:36779773..36781769-chr14:36782151..36784795,2	K562	blood:

Variant related genes	Relation type
MBIP	TF binding region
ENSG00000257585	Chromatin interaction
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10133125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11844502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884915	1.00[CEU][hapmap]
rs12890888	0.93[EUR][1000 genomes]
rs12897795	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535722	0.83[EUR][1000 genomes]
rs17104430	1.00[CEU][hapmap]
rs2415332	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2415334	0.86[ASN][1000 genomes]
rs2415335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415339	0.81[EUR][1000 genomes]
rs2553575	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3168891	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742592	0.82[CEU][hapmap];0.92[TSI][hapmap]
rs3762904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805354	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842844	0.98[EUR][1000 genomes]
rs3844012	0.84[EUR][1000 genomes]
rs3844013	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850257	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850260	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850267	0.93[EUR][1000 genomes]
rs3850268	0.93[EUR][1000 genomes]
rs3861477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861481	0.93[EUR][1000 genomes]
rs3909608	0.93[EUR][1000 genomes]
rs3909615	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4083518	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4127807	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378535	0.91[EUR][1000 genomes]
rs4898561	0.93[EUR][1000 genomes]
rs4898563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898597	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900716	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4900717	0.93[EUR][1000 genomes]
rs4900732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900733	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900790	0.93[EUR][1000 genomes]
rs4900833	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4900924	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901456	0.98[EUR][1000 genomes]
rs4901597	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6571742	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142956	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146921	0.84[EUR][1000 genomes]
rs7154340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157811	0.98[EUR][1000 genomes]
rs7159366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013261	0.89[EUR][1000 genomes]
rs9788479	0.82[AFR][1000 genomes];0.93[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	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:36766000-36783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
7	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
9	chr14:36771800-36783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
11	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
12	chr14:36778400-36785600	Weak transcription	HMEC	breast
13	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
14	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
15	chr14:36780400-36788800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
18	chr14:36780600-36788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:36780600-36788400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:36780600-36788400	Weak transcription	Fetal Stomach	stomach
21	chr14:36780600-36788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:36780600-36788600	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:36780800-36783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:36780800-36783800	Weak transcription	Brain Germinal Matrix	brain
26	chr14:36780800-36784400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:36780800-36786000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:36780800-36787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:36780800-36788000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:36780800-36788000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:36780800-36788600	Weak transcription	Thymus	Thymus
34	chr14:36781000-36783000	Weak transcription	Fetal Lung	lung
35	chr14:36781000-36784400	Weak transcription	NHEK	skin
36	chr14:36781000-36784600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:36781000-36784800	Weak transcription	K562	blood
38	chr14:36781000-36785400	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:36781000-36785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:36781000-36786400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:36781000-36786400	Weak transcription	A549	lung
42	chr14:36781000-36786600	Weak transcription	Osteobl	bone
43	chr14:36781000-36786800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:36781000-36787000	Weak transcription	Fetal Brain Female	brain
45	chr14:36781000-36787400	Weak transcription	Primary T cells from cord blood	blood
46	chr14:36781000-36787400	Weak transcription	HSMM	muscle
47	chr14:36781000-36787800	Weak transcription	NHDF-Ad	bronchial
48	chr14:36781000-36787800	Weak transcription	NHLF	lung
49	chr14:36781000-36788000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:36781000-36788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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