Variant report

Variant	rs7723344
Chromosome Location	chr5:76004014-76004015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76003087..76005831-chr5:76008202..76010428,3	K562	blood:
2	chr5:75994284..75996873-chr5:76003044..76005925,2	K562	blood:
3	chr5:75999626..76001193-chr5:76002923..76004547,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12735	0.84[GIH][hapmap]
rs152339	0.90[AFR][1000 genomes]
rs153316	0.90[AFR][1000 genomes]
rs153317	0.90[AFR][1000 genomes]
rs2227750	0.82[GIH][hapmap]
rs27951	0.85[AFR][1000 genomes]
rs464494	0.84[GIH][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs6883768	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:75988800-76011000	Weak transcription	Lung	lung
8	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:75991600-76005800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:75993800-76004200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:75994200-76006400	Weak transcription	GM12878-XiMat	blood
13	chr5:75997200-76010400	Weak transcription	HepG2	liver
14	chr5:75997800-76004200	Weak transcription	HMEC	breast
15	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:75997800-76010800	Weak transcription	Gastric	stomach
17	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
18	chr5:75998000-76004200	Weak transcription	Spleen	Spleen
19	chr5:75998000-76007400	Weak transcription	Fetal Stomach	stomach
20	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:75998800-76004200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:75998800-76004200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:75999800-76007200	Weak transcription	Stomach Mucosa	stomach
29	chr5:76000400-76007200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:76000600-76004200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:76000600-76004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:76001400-76004200	Weak transcription	Primary T cells from cord blood	blood
33	chr5:76001600-76007200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:76001800-76004200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:76001800-76005000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:76001800-76005800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:76001800-76010200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:76002000-76005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:76002000-76005600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:76002600-76005200	Strong transcription	Liver	Liver
41	chr5:76002800-76005400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:76003000-76004200	Weak transcription	NHLF	lung
43	chr5:76003000-76010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:76003400-76008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:76003400-76008800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:76004000-76004200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:76004000-76004200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:76004000-76004400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:76004000-76004400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:76004000-76004400	Strong transcription	Primary B cells from cord blood	blood

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