Variant report

Variant	rs73799052
Chromosome Location	chr4:7014942-7014943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6716416..6719538-chr4:7012135..7015080,3	MCF-7	breast:
2	chr4:7014682..7016911-chr4:7023633..7025247,2	K562	blood:
3	chr4:7001213..7003031-chr4:7014527..7016053,2	K562	blood:
4	chr4:6909483..6912302-chr4:7014430..7017423,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000186222	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57033890	1.00[AMR][1000 genomes]
rs59204906	1.00[EUR][1000 genomes]
rs59391324	1.00[EUR][1000 genomes]
rs73796376	1.00[AMR][1000 genomes]
rs73799034	1.00[AMR][1000 genomes]
rs73799038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73799050	1.00[EUR][1000 genomes]
rs7691106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv593547	chr4:7002344-7032180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
3	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
4	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
11	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:7000600-7034400	Strong transcription	Dnd41	blood
13	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
14	chr4:7001600-7017200	Strong transcription	Placenta	Placenta
15	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:7001800-7020000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:7002200-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:7004400-7016200	Weak transcription	Fetal Kidney	kidney
26	chr4:7006000-7015400	Strong transcription	HSMM	muscle
27	chr4:7006400-7016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:7006600-7021800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:7007600-7022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:7008000-7017800	Strong transcription	Colon Smooth Muscle	Colon
31	chr4:7008000-7018400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:7008000-7022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:7008200-7015400	Strong transcription	A549	lung
34	chr4:7008200-7019600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:7008200-7022000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:7008200-7034600	Strong transcription	Fetal Brain Female	brain
37	chr4:7008200-7035200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:7008400-7022800	Strong transcription	NHEK	skin
39	chr4:7008400-7035400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:7008400-7035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:7008800-7035000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:7009400-7019600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:7009600-7015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:7009800-7020000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr4:7009800-7021600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:7009800-7035200	Strong transcription	Fetal Intestine Large	intestine
47	chr4:7009800-7035600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr4:7010000-7018600	Strong transcription	HMEC	breast
49	chr4:7010000-7020200	Strong transcription	HepG2	liver
50	chr4:7010000-7021200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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