Variant report

Variant	rs62321993
Chromosome Location	chr4:95371334-95371335
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	chr4:95364111..95366992-chr4:95370315..95372013,2	K562	blood:
2	chr4:95262528..95264165-chr4:95371036..95373901,2	K562	blood:

Variant related genes	Relation type
ENSG00000163106	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10003483	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28445841	0.82[EUR][1000 genomes]
rs3805309	0.82[AFR][1000 genomes]
rs62319387	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62319388	0.82[EUR][1000 genomes]
rs62319389	0.82[EUR][1000 genomes]
rs62321990	0.82[ASN][1000 genomes]
rs62321991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321992	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321996	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6843496	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95367800-95372200	Weak transcription	Psoas Muscle	Psoas
2	chr4:95368200-95372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:95368600-95372200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:95368600-95372200	Weak transcription	NH-A	brain
5	chr4:95368800-95372000	Weak transcription	HSMMtube	muscle
6	chr4:95369200-95371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:95369400-95372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:95369400-95373000	Weak transcription	Small Intestine	intestine
9	chr4:95369600-95372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:95369600-95372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:95369600-95372200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:95369600-95372200	Weak transcription	NHLF	lung
13	chr4:95369800-95372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:95369800-95372200	Weak transcription	HSMM	muscle
15	chr4:95369800-95372200	Weak transcription	NHDF-Ad	bronchial
16	chr4:95369800-95372200	Weak transcription	Osteobl	bone
17	chr4:95370200-95371600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:95370200-95372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:95370200-95372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:95370200-95372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:95370200-95372200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:95370200-95372200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:95370400-95372000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:95370400-95372000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:95370400-95372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:95370400-95372000	Weak transcription	HMEC	breast
27	chr4:95370400-95372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:95370400-95372200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:95370400-95372200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:95370400-95372200	Weak transcription	NHEK	skin
31	chr4:95370600-95372000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:95370600-95372000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:95370600-95372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:95370600-95372000	Weak transcription	A549	lung
35	chr4:95370600-95372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:95370600-95372200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:95370600-95372200	Weak transcription	Fetal Intestine Small	intestine
38	chr4:95370600-95372200	Weak transcription	Fetal Kidney	kidney
39	chr4:95370600-95372200	Weak transcription	Hela-S3	cervix
40	chr4:95370600-95372200	Weak transcription	HUVEC	blood vessel
41	chr4:95370600-95372200	Weak transcription	K562	blood
42	chr4:95370600-95372400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:95370600-95372400	Weak transcription	Stomach Mucosa	stomach
44	chr4:95370800-95371800	Weak transcription	Fetal Heart	heart
45	chr4:95370800-95372200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:95371000-95371400	Weak transcription	HepG2	liver
47	chr4:95371000-95372000	Weak transcription	Liver	Liver
48	chr4:95371000-95372000	Weak transcription	Fetal Intestine Large	intestine
49	chr4:95371200-95372200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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