Variant report

Variant	rs28469700
Chromosome Location	chr5:95057172-95057173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:95021502..95023409-chr5:95054349..95057566,3	K562	blood:

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10076138	0.86[AFR][1000 genomes];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[AMR][1000 genomes]
rs17085133	1.00[AMR][1000 genomes]
rs17085143	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AMR][1000 genomes]
rs29000874	1.00[AMR][1000 genomes]
rs29000875	1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AMR][1000 genomes]
rs58023885	1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]
rs889223	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95047200-95062400	Weak transcription	Psoas Muscle	Psoas
2	chr5:95047600-95058200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:95048200-95059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:95048400-95063600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:95048400-95066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:95048400-95066600	Weak transcription	Left Ventricle	heart
7	chr5:95050800-95058000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:95052000-95060600	Weak transcription	HSMM	muscle
9	chr5:95052200-95059400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95052200-95063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:95053800-95057800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:95054200-95059000	Enhancers	K562	blood
13	chr5:95054200-95060200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:95054400-95063400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:95054400-95064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:95054400-95066200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:95054600-95057400	Enhancers	Hela-S3	cervix
18	chr5:95054800-95058600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:95054800-95062400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:95054800-95063600	Weak transcription	Spleen	Spleen
21	chr5:95054800-95065800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:95055000-95058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:95055000-95059000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:95055000-95059200	Weak transcription	HSMMtube	muscle
25	chr5:95055000-95063200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:95055000-95064400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:95055000-95064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:95055200-95057200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:95055200-95057400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:95055200-95057800	Weak transcription	Placenta	Placenta
31	chr5:95055200-95058000	Enhancers	Adipose Nuclei	Adipose
32	chr5:95055200-95058400	Weak transcription	Dnd41	blood
33	chr5:95055200-95058800	Weak transcription	Primary T cells from cord blood	blood
34	chr5:95055200-95058800	Weak transcription	Fetal Thymus	thymus
35	chr5:95055200-95059000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:95055200-95062400	Weak transcription	Thymus	Thymus
37	chr5:95055200-95063600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:95055400-95057400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:95055400-95058200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:95055600-95057800	Enhancers	Brain Anterior Caudate	brain
41	chr5:95055600-95057800	Enhancers	Brain Hippocampus Middle	brain
42	chr5:95055600-95058000	Enhancers	Brain Substantia Nigra	brain
43	chr5:95055800-95057200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:95055800-95057200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:95055800-95057200	Enhancers	NHDF-Ad	bronchial
46	chr5:95055800-95057600	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:95055800-95058000	Enhancers	Fetal Lung	lung
48	chr5:95055800-95059400	Weak transcription	GM12878-XiMat	blood
49	chr5:95056000-95057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:95056000-95062400	Weak transcription	Fetal Intestine Small	intestine

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