Variant report

Variant	rs3850258
Chromosome Location	chr14:36765776-36765777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36759414..36761344-chr14:36764422..36766950,2	MCF-7	breast:
2	chr14:36763341..36766160-chr14:36772206..36774961,2	K562	blood:
3	chr14:36764356..36766660-chr14:36769237..36771689,3	K562	blood:

Variant related genes	Relation type
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 75 )
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];0.97[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558802	0.92[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];0.89[YRI][hapmap];0.94[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];0.92[YRI][hapmap];0.92[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];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[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	0.94[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];0.93[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[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]
rs3850259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[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	1.00[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	0.86[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	0.84[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	0.91[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	0.97[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];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155498	0.94[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	0.94[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	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv34543	chr14:36736349-36772564	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2751271	chr14:36745649-36782949	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36757400-36765800	Weak transcription	Fetal Brain Male	brain
2	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:36761400-36767000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:36761600-36765800	Weak transcription	Liver	Liver
5	chr14:36761600-36766000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:36761800-36765800	Weak transcription	Thymus	Thymus
7	chr14:36761800-36766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:36761800-36766400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:36761800-36766600	Weak transcription	NH-A	brain
10	chr14:36762000-36770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:36762000-36778800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:36762200-36766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:36762200-36766000	Weak transcription	NHDF-Ad	bronchial
14	chr14:36762200-36766800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:36762400-36766000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:36762400-36766600	Weak transcription	A549	lung
17	chr14:36762600-36765800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:36762600-36769800	Weak transcription	NHLF	lung
19	chr14:36762800-36766000	Weak transcription	Primary B cells from cord blood	blood
20	chr14:36762800-36766400	Weak transcription	Right Ventricle	heart
21	chr14:36763000-36765800	Weak transcription	HUVEC	blood vessel
22	chr14:36763000-36765800	Weak transcription	Osteobl	bone
23	chr14:36763200-36765800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:36763200-36766000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:36763200-36766000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:36763400-36769600	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:36763600-36765800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:36763800-36765800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:36763800-36765800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:36763800-36765800	Weak transcription	Fetal Heart	heart
31	chr14:36763800-36766000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:36763800-36766200	Weak transcription	Fetal Thymus	thymus
33	chr14:36763800-36766200	Weak transcription	Small Intestine	intestine
34	chr14:36763800-36777800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:36764000-36765800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:36764000-36765800	Weak transcription	Brain Anterior Caudate	brain
37	chr14:36764000-36766000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:36764000-36766000	Weak transcription	Fetal Kidney	kidney
39	chr14:36764000-36766000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:36764000-36766200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:36764000-36766200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:36764200-36765800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:36764200-36765800	Weak transcription	Gastric	stomach
44	chr14:36764200-36766000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:36764200-36766000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:36764200-36766000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:36764400-36766000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:36764400-36766000	Weak transcription	Spleen	Spleen
49	chr14:36764400-36766200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:36764400-36766200	Weak transcription	GM12878-XiMat	blood

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