Variant report

Variant	rs7728216
Chromosome Location	chr5:112139391-112139392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112121866..112123891-chr5:112136309..112139852,3	K562	blood:
2	chr5:112137172..112140072-chr5:112143234..112145432,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10515446	0.86[ASN][1000 genomes]
rs11950612	0.91[ASN][1000 genomes]
rs12189	1.00[EUR][1000 genomes]
rs1613148	0.91[ASN][1000 genomes]
rs1644240	1.00[ASN][1000 genomes]
rs17164132	0.80[ASN][1000 genomes]
rs1734242	0.91[ASN][1000 genomes]
rs1804197	1.00[EUR][1000 genomes]
rs2304793	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2707761	0.87[ASN][1000 genomes]
rs3733961	1.00[EUR][1000 genomes]
rs56015954	0.82[ASN][1000 genomes]
rs58625991	0.89[ASN][1000 genomes]
rs60905866	0.82[ASN][1000 genomes]
rs6650981	0.80[ASN][1000 genomes]
rs6867376	0.81[ASN][1000 genomes]
rs6885768	0.87[ASN][1000 genomes]
rs6891448	0.91[ASN][1000 genomes]
rs6899169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216203	0.80[ASN][1000 genomes]
rs7703438	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7706623	0.81[ASN][1000 genomes]
rs7707339	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7712157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712537	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
5	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112115800-112151200	Weak transcription	NHEK	skin
7	chr5:112118200-112151200	Weak transcription	Gastric	stomach
8	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
9	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
10	chr5:112123600-112141800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112124000-112144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:112125000-112140000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:112126800-112142000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:112127800-112140000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:112129000-112144200	Weak transcription	Esophagus	oesophagus
16	chr5:112129000-112149800	Weak transcription	Left Ventricle	heart
17	chr5:112129000-112151600	Weak transcription	Hela-S3	cervix
18	chr5:112129000-112154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:112129000-112157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:112129400-112163800	Weak transcription	Small Intestine	intestine
21	chr5:112129600-112163600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:112129800-112154800	Weak transcription	NH-A	brain
23	chr5:112130400-112145800	Weak transcription	Placenta	Placenta
24	chr5:112130600-112144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:112130600-112150000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:112130600-112150200	Weak transcription	NHLF	lung
27	chr5:112130600-112154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112130600-112155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:112130600-112155600	Weak transcription	Fetal Heart	heart
30	chr5:112130800-112139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:112130800-112143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:112130800-112146600	Weak transcription	HSMMtube	muscle
33	chr5:112130800-112149800	Weak transcription	Lung	lung
34	chr5:112130800-112150000	Weak transcription	Spleen	Spleen
35	chr5:112130800-112150200	Weak transcription	Aorta	Aorta
36	chr5:112130800-112151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:112130800-112151400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:112130800-112154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:112130800-112155400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:112131000-112140800	Weak transcription	Osteobl	bone
41	chr5:112131000-112142400	Weak transcription	Fetal Intestine Small	intestine
42	chr5:112131000-112144200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:112131200-112140000	Weak transcription	Fetal Stomach	stomach
44	chr5:112131200-112146400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:112131200-112151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:112131200-112151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:112131400-112146600	Weak transcription	Ovary	ovary
48	chr5:112131400-112151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:112131800-112157800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:112131800-112164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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