Variant report

Variant	rs73289994
Chromosome Location	chr14:71376992-71376993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71372585..71374647-chr14:71376260..71377778,2	K562	blood:
2	chr14:71376693..71378500-chr14:71379508..71383597,4	MCF-7	breast:
3	chr14:71376408..71378571-chr14:71380621..71383425,3	MCF-7	breast:
4	chr14:71373975..71375521-chr14:71375860..71378276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11844851	1.00[AMR][1000 genomes]
rs4496061	1.00[AMR][1000 genomes]
rs56111655	1.00[AMR][1000 genomes]
rs56195946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56709080	1.00[AMR][1000 genomes]
rs57509106	1.00[AMR][1000 genomes]
rs59122223	1.00[AMR][1000 genomes]
rs59880130	0.92[AFR][1000 genomes]
rs59949441	1.00[AMR][1000 genomes]
rs60316971	1.00[AMR][1000 genomes]
rs60473605	1.00[AMR][1000 genomes]
rs7149960	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155387	1.00[AMR][1000 genomes]
rs7155471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290000	1.00[AMR][1000 genomes]
rs73291831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291896	0.83[AFR][1000 genomes]
rs73293803	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293814	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293816	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293828	1.00[AMR][1000 genomes]
rs73295506	1.00[AMR][1000 genomes]
rs73295523	1.00[AMR][1000 genomes]
rs73295548	1.00[AMR][1000 genomes]
rs73295552	1.00[AMR][1000 genomes]
rs73295570	1.00[AMR][1000 genomes]
rs73297518	1.00[AMR][1000 genomes]
rs73297526	1.00[AMR][1000 genomes]
rs74060582	1.00[AMR][1000 genomes]
rs74060593	1.00[AMR][1000 genomes]
rs74061475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019019	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71373400-71377000	Active TSS	GM12878-XiMat	blood
2	chr14:71373600-71377800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:71373600-71378000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:71373800-71377000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:71373800-71377400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr14:71374000-71377000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:71374000-71377400	Active TSS	NH-A	brain
8	chr14:71375600-71377000	Weak transcription	Esophagus	oesophagus
9	chr14:71375600-71377200	Weak transcription	Pancreas	Pancrea
10	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:71375800-71377200	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:71376000-71377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:71376000-71377000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:71376000-71377000	Weak transcription	Fetal Thymus	thymus
15	chr14:71376000-71377000	Weak transcription	Left Ventricle	heart
16	chr14:71376000-71377000	Weak transcription	Ovary	ovary
17	chr14:71376000-71377000	Weak transcription	Psoas Muscle	Psoas
18	chr14:71376000-71377200	Enhancers	Fetal Stomach	stomach
19	chr14:71376000-71377400	Enhancers	Brain Angular Gyrus	brain
20	chr14:71376000-71377600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:71376000-71377800	Enhancers	Colon Smooth Muscle	Colon
22	chr14:71376000-71378000	Enhancers	Brain Substantia Nigra	brain
23	chr14:71376000-71378000	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:71376000-71379200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:71376000-71379400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:71376000-71380800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:71376000-71401000	Weak transcription	Lung	lung
29	chr14:71376200-71377000	Weak transcription	Right Ventricle	heart
30	chr14:71376200-71377000	Enhancers	HSMM	muscle
31	chr14:71376200-71377600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:71376200-71378000	Enhancers	Fetal Heart	heart
33	chr14:71376200-71378200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:71376200-71379200	Weak transcription	Aorta	Aorta
35	chr14:71376200-71379600	Enhancers	Liver	Liver
36	chr14:71376200-71380200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:71376200-71383000	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:71376400-71377000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr14:71376400-71377000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:71376400-71377000	Enhancers	Brain Germinal Matrix	brain
41	chr14:71376400-71377000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:71376400-71377400	Active TSS	Primary B cells from cord blood	blood
43	chr14:71376400-71377400	Enhancers	Brain Hippocampus Middle	brain
44	chr14:71376400-71377600	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:71376400-71378000	Enhancers	Fetal Brain Male	brain
46	chr14:71376400-71378600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:71376400-71378600	Enhancers	Adipose Nuclei	Adipose
48	chr14:71376400-71379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:71376400-71379400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:71376400-71380200	Enhancers	HepG2	liver

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