Variant report

Variant	rs57120385
Chromosome Location	chr5:95058478-95058479
allele	C/T
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	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57266987	0.82[AFR][1000 genomes]
rs58614562	0.82[AFR][1000 genomes]
rs6876866	0.84[AFR][1000 genomes]
rs9763677	0.94[AFR][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	chr5:95048200-95059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:95048400-95063600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:95048400-95066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:95048400-95066600	Weak transcription	Left Ventricle	heart
6	chr5:95052000-95060600	Weak transcription	HSMM	muscle
7	chr5:95052200-95059400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:95052200-95063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:95054200-95059000	Enhancers	K562	blood
10	chr5:95054200-95060200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:95054400-95063400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:95054400-95064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:95054400-95066200	Weak transcription	Primary B cells from cord blood	blood
14	chr5:95054800-95058600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:95054800-95062400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:95054800-95063600	Weak transcription	Spleen	Spleen
17	chr5:95054800-95065800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:95055000-95059000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:95055000-95059200	Weak transcription	HSMMtube	muscle
20	chr5:95055000-95063200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:95055000-95064400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:95055000-95064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:95055200-95058800	Weak transcription	Primary T cells from cord blood	blood
24	chr5:95055200-95058800	Weak transcription	Fetal Thymus	thymus
25	chr5:95055200-95059000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:95055200-95062400	Weak transcription	Thymus	Thymus
27	chr5:95055200-95063600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:95055800-95059400	Weak transcription	GM12878-XiMat	blood
29	chr5:95056000-95062400	Weak transcription	Fetal Intestine Small	intestine
30	chr5:95056000-95062400	Weak transcription	Pancreas	Pancrea
31	chr5:95056000-95062800	Weak transcription	Fetal Intestine Large	intestine
32	chr5:95056000-95063600	Weak transcription	Small Intestine	intestine
33	chr5:95056200-95059000	Weak transcription	Ovary	ovary
34	chr5:95056200-95061800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:95056400-95059200	Weak transcription	NHLF	lung
36	chr5:95056400-95061000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:95056400-95062400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:95056600-95059000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95056800-95061800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:95057000-95059000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:95057000-95059200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:95057200-95059400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:95057200-95059400	Weak transcription	NHDF-Ad	bronchial
44	chr5:95057200-95060600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:95057200-95061000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:95057200-95062000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:95057200-95062400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:95057200-95062600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:95057200-95065800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:95057400-95058800	Weak transcription	Hela-S3	cervix

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