Variant report

Variant	rs944050
Chromosome Location	chr14:64700045-64700046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
2	chr14:64694405..64698467-chr14:64698699..64701055,4	MCF-7	breast:
3	chr14:64681860..64684849-chr14:64698718..64700886,3	MCF-7	breast:
4	chr14:64699270..64701391-chr14:64702522..64704154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11158526	1.00[CEU][hapmap]
rs11158529	1.00[CEU][hapmap]
rs1152580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152585	0.89[EUR][1000 genomes]
rs1152596	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1152602	0.96[EUR][1000 genomes]
rs11625778	0.92[EUR][1000 genomes]
rs11628107	1.00[CEU][hapmap]
rs11629158	0.85[EUR][1000 genomes]
rs12432035	1.00[CEU][hapmap]
rs12435492	1.00[CEU][hapmap]
rs1256027	0.92[EUR][1000 genomes]
rs1256032	0.92[EUR][1000 genomes]
rs1256034	1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1256049	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1256053	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1256055	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1256060	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1256066	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];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256104	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1256116	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1256119	0.85[EUR][1000 genomes]
rs1256120	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1256122	0.86[EUR][1000 genomes]
rs1273196	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2776606	0.92[EUR][1000 genomes]
rs4902278	1.00[GIH][hapmap]
rs7144437	1.00[GIH][hapmap]
rs8015278	1.00[GIH][hapmap]
rs944460	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs944461	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs953592	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1050378	chr14:64686543-64703012	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv524908	chr14:64700045-64703593	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
3	chr14:64688600-64700200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr14:64688800-64710600	Weak transcription	Fetal Heart	heart
5	chr14:64689200-64705400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:64690200-64711200	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:64691600-64700800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:64691600-64701000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:64691800-64701400	Weak transcription	NHEK	skin
10	chr14:64692200-64701000	Weak transcription	Brain Angular Gyrus	brain
11	chr14:64692400-64700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:64692400-64701200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:64692600-64700400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:64694600-64701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:64695800-64700200	Weak transcription	Fetal Brain Male	brain
16	chr14:64695800-64705800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:64696000-64700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:64696000-64700800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:64696000-64701000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:64696000-64701200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:64696000-64701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:64696000-64701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:64696000-64701800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:64696000-64702800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:64696000-64703400	Weak transcription	Gastric	stomach
26	chr14:64696000-64705600	Weak transcription	Fetal Lung	lung
27	chr14:64696000-64705800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:64696200-64700400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:64696200-64700600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:64696200-64701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64696200-64702800	Weak transcription	Fetal Kidney	kidney
32	chr14:64696200-64706000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:64696400-64701000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:64696400-64703000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:64696400-64708200	Weak transcription	Aorta	Aorta
36	chr14:64697000-64700400	Strong transcription	Dnd41	blood
37	chr14:64697200-64702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:64697600-64700800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:64697800-64700400	Strong transcription	Brain Germinal Matrix	brain
40	chr14:64698200-64700600	Strong transcription	Adipose Nuclei	Adipose
41	chr14:64698200-64700800	Enhancers	HUVEC	blood vessel
42	chr14:64698200-64701600	Weak transcription	Colonic Mucosa	Colon
43	chr14:64698400-64700600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:64698400-64705600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:64698600-64700400	Strong transcription	Esophagus	oesophagus
46	chr14:64698600-64700600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:64698600-64702600	Strong transcription	Fetal Stomach	stomach
48	chr14:64698800-64700200	Genic enhancers	Left Ventricle	heart
49	chr14:64698800-64700200	Genic enhancers	Spleen	Spleen
50	chr14:64698800-64700400	Genic enhancers	Thymus	Thymus

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