Variant report

Variant	rs2639794
Chromosome Location	chr4:95430997-95430998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95429157..95431887-chr4:95434786..95438000,3	K562	blood:
2	chr4:95427467..95429085-chr4:95430722..95432306,2	K562	blood:
3	chr4:95372282..95374578-chr4:95428337..95431259,2	K562	blood:
4	chr4:95430387..95432047-chr4:95434786..95436356,2	K562	blood:
5	chr4:95406132..95409041-chr4:95429869..95431483,2	K562	blood:
6	chr4:95371846..95374578-chr4:95428736..95431275,4	K562	blood:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1082513	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493109	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1493111	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845176	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438140	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2452555	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2452563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452567	0.98[ASN][1000 genomes]
rs2510789	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2510793	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510796	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510797	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555215	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs774984	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs774985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774987	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774990	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774991	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421400-95431400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:95423200-95436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95424600-95431800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:95427800-95431400	Enhancers	Duodenum Mucosa	Duodenum
11	chr4:95429000-95431000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:95429200-95431400	Enhancers	Left Ventricle	heart
13	chr4:95429200-95435600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:95429400-95436800	Weak transcription	HSMM	muscle
15	chr4:95429400-95437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:95429600-95431000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:95429600-95431200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:95429600-95431200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:95429600-95432400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:95429600-95436800	Weak transcription	NHEK	skin
21	chr4:95429800-95432200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:95429800-95436600	Weak transcription	HUVEC	blood vessel
23	chr4:95429800-95437400	Weak transcription	Aorta	Aorta
24	chr4:95429800-95437600	Weak transcription	Psoas Muscle	Psoas
25	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
26	chr4:95429800-95440000	Weak transcription	Ovary	ovary
27	chr4:95430000-95437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
29	chr4:95430200-95431000	Weak transcription	Stomach Mucosa	stomach
30	chr4:95430200-95431000	Weak transcription	HepG2	liver
31	chr4:95430200-95431800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:95430200-95432400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:95430200-95437400	Weak transcription	K562	blood
34	chr4:95430400-95431400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:95430400-95431400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:95430400-95431600	Weak transcription	Fetal Lung	lung
37	chr4:95430400-95433000	Enhancers	Fetal Heart	heart
38	chr4:95430400-95433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:95430400-95436200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:95430400-95436200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:95430400-95436200	Weak transcription	NH-A	brain
42	chr4:95430400-95436400	Weak transcription	Fetal Intestine Large	intestine
43	chr4:95430400-95437000	Weak transcription	NHDF-Ad	bronchial
44	chr4:95430400-95437200	Weak transcription	HMEC	breast
45	chr4:95430600-95431000	Weak transcription	A549	lung
46	chr4:95430600-95434800	Weak transcription	Liver	Liver
47	chr4:95430600-95435800	Weak transcription	Osteobl	bone
48	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
49	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
50	chr4:95430800-95431200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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