Variant report

Variant	rs28927970
Chromosome Location	chr5:95148802-95148803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95148182..95149810-chr5:95152162..95154421,2	MCF-7	breast:
2	chr5:94890695..94892363-chr5:95148648..95150304,2	K562	blood:
3	chr5:95147817..95150624-chr5:95169490..95171087,2	K562	blood:

Variant related genes	Relation type
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085324	1.00[AMR][1000 genomes]
rs17085331	1.00[AMR][1000 genomes]
rs2161314	1.00[AFR][1000 genomes]
rs28469700	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927976	1.00[AFR][1000 genomes]
rs29000874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29000875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58023885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]
rs889223	1.00[AFR][1000 genomes];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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
6	chr5:95130000-95157400	Weak transcription	Ovary	ovary
7	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
8	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
9	chr5:95143800-95149600	Enhancers	Fetal Lung	lung
10	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
11	chr5:95144600-95149000	Enhancers	Left Ventricle	heart
12	chr5:95144600-95151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:95144800-95149600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:95145200-95149000	Enhancers	Thymus	Thymus
15	chr5:95145400-95150200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:95145600-95149600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:95145600-95153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:95145600-95154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:95145600-95154400	Weak transcription	Esophagus	oesophagus
20	chr5:95145800-95149000	Weak transcription	Brain Anterior Caudate	brain
21	chr5:95145800-95149400	Enhancers	Fetal Heart	heart
22	chr5:95146000-95149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:95146400-95152600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:95146600-95150400	Weak transcription	Fetal Stomach	stomach
26	chr5:95146600-95153000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:95146600-95153800	Weak transcription	Brain Substantia Nigra	brain
28	chr5:95146800-95149000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:95146800-95150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:95146800-95152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:95146800-95153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:95147000-95153400	Weak transcription	NHDF-Ad	bronchial
34	chr5:95147400-95152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:95147600-95149200	Enhancers	Stomach Mucosa	stomach
36	chr5:95147600-95149200	Genic enhancers	Dnd41	blood
37	chr5:95147600-95152600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:95147600-95152600	Weak transcription	Small Intestine	intestine
39	chr5:95147800-95149200	Genic enhancers	Fetal Intestine Large	intestine
40	chr5:95147800-95149400	Genic enhancers	Duodenum Mucosa	Duodenum
41	chr5:95147800-95150800	Strong transcription	Primary B cells from cord blood	blood
42	chr5:95147800-95152600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:95148000-95149400	Genic enhancers	Liver	Liver
44	chr5:95148000-95150600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:95148000-95152200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:95148000-95152600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:95148000-95152800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:95148200-95149000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:95148200-95149000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:95148200-95149000	Enhancers	HepG2	liver

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