Variant report

Variant	rs28701482
Chromosome Location	chr14:96831943-96831944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96830541..96832180-chr14:96844013..96846794,2	MCF-7	breast:
2	chr14:96505197..96507256-chr14:96828874..96832469,3	MCF-7	breast:
3	chr14:96828523..96832149-chr14:96849240..96855335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222276	Chromatin interaction
ENSG00000227051	Chromatin interaction
ENSG00000100744	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17094176	1.00[AMR][1000 genomes]
rs55688559	1.00[AMR][1000 genomes]
rs56137414	1.00[AMR][1000 genomes]
rs56265756	1.00[AMR][1000 genomes]
rs56296574	1.00[AMR][1000 genomes]
rs58550318	1.00[AMR][1000 genomes]
rs59461473	1.00[AMR][1000 genomes]
rs60121386	1.00[AMR][1000 genomes]
rs60248045	1.00[AMR][1000 genomes]
rs7146082	1.00[AMR][1000 genomes]
rs7146728	1.00[AMR][1000 genomes]
rs73349211	1.00[AMR][1000 genomes]
rs73349218	1.00[AMR][1000 genomes]
rs73363250	1.00[AMR][1000 genomes]
rs73363256	1.00[AMR][1000 genomes]
rs73363276	1.00[AMR][1000 genomes]
rs73363284	1.00[AMR][1000 genomes]
rs73363291	1.00[AMR][1000 genomes]
rs73363299	1.00[AMR][1000 genomes]
rs73365110	1.00[AMR][1000 genomes]
rs73365112	1.00[AMR][1000 genomes]
rs74086703	1.00[AMR][1000 genomes]
rs74086710	1.00[AMR][1000 genomes]
rs74086716	1.00[AMR][1000 genomes]
rs74086718	1.00[AMR][1000 genomes]
rs74086723	1.00[AMR][1000 genomes]
rs74086724	1.00[AMR][1000 genomes]
rs74086728	1.00[AMR][1000 genomes]
rs74086730	1.00[AMR][1000 genomes]
rs74086735	1.00[AMR][1000 genomes]
rs74086741	1.00[AMR][1000 genomes]
rs74090353	1.00[AMR][1000 genomes]
rs74090354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv530800	chr14:96253695-96920094	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	esv18299	chr14:96831346-96832651	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96830800-96832200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr14:96830800-96832400	Enhancers	Gastric	stomach
3	chr14:96830800-96849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:96830800-96857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:96830800-96857400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:96830800-96857400	Weak transcription	Aorta	Aorta
7	chr14:96831000-96832400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:96831000-96832600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:96831000-96835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:96831000-96849200	Weak transcription	Fetal Stomach	stomach
11	chr14:96831200-96832200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:96831200-96832200	Enhancers	Stomach Mucosa	stomach
13	chr14:96831200-96832400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:96831200-96832400	Enhancers	Liver	Liver
15	chr14:96831200-96832600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:96831200-96832600	Enhancers	Brain Germinal Matrix	brain
17	chr14:96831200-96832600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr14:96831200-96834200	Weak transcription	NH-A	brain
19	chr14:96831200-96834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:96831200-96850000	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:96831200-96857200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:96831200-96857400	Weak transcription	Psoas Muscle	Psoas
23	chr14:96831400-96832000	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr14:96831400-96832400	Enhancers	Fetal Intestine Small	intestine
25	chr14:96831400-96832400	Enhancers	Pancreas	Pancrea
26	chr14:96831400-96832400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:96831400-96832400	Enhancers	Small Intestine	intestine
28	chr14:96831400-96832400	Enhancers	NHEK	skin
29	chr14:96831400-96832600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:96831400-96832600	Enhancers	HepG2	liver
31	chr14:96831400-96834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:96831400-96836200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:96831400-96840800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:96831400-96844000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:96831400-96844000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:96831400-96844200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:96831400-96848600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:96831400-96848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:96831400-96848600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:96831400-96849200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:96831400-96849200	Weak transcription	Left Ventricle	heart
42	chr14:96831400-96849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:96831400-96851800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:96831400-96856600	Weak transcription	Thymus	Thymus
45	chr14:96831400-96857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:96831400-96857200	Weak transcription	Fetal Brain Male	brain
47	chr14:96831400-96857400	Weak transcription	Ovary	ovary
48	chr14:96831400-96857600	Weak transcription	Esophagus	oesophagus
49	chr14:96831400-96857600	Weak transcription	Lung	lung
50	chr14:96831600-96832400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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