Variant report

Variant	rs73751795
Chromosome Location	chr5:43648861-43648862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43646050..43649875-chr5:43653093..43656688,3	K562	blood:
2	chr5:43555714..43557829-chr5:43647823..43651133,3	K562	blood:
3	chr5:43643698..43645571-chr5:43647494..43649590,2	K562	blood:
4	chr5:43643742..43646720-chr5:43647834..43650094,2	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000112992	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10052717	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054206	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10058837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10065095	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10067068	1.00[AMR][1000 genomes]
rs10078602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10472385	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473316	1.00[ASN][1000 genomes]
rs10473317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473328	0.81[AFR][1000 genomes]
rs13355686	1.00[ASN][1000 genomes]
rs13358229	1.00[ASN][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13360656	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13360905	1.00[ASN][1000 genomes]
rs13436624	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28629332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55721836	0.81[AFR][1000 genomes]
rs55912106	1.00[ASN][1000 genomes]
rs56222737	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58623090	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59405308	1.00[AMR][1000 genomes]
rs59604594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59661208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59750428	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60376053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6883158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751749	1.00[AMR][1000 genomes]
rs73751779	1.00[ASN][1000 genomes]
rs73751782	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751784	1.00[ASN][1000 genomes]
rs73751785	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751786	1.00[ASN][1000 genomes]
rs73751787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751789	1.00[ASN][1000 genomes]
rs73751792	1.00[ASN][1000 genomes]
rs73751793	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751797	1.00[ASN][1000 genomes]
rs73751798	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753610	1.00[AMR][1000 genomes]
rs73753611	1.00[AMR][1000 genomes]
rs7701080	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7702908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7719138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292888	1.00[ASN][1000 genomes]
rs9292889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292890	1.00[AMR][1000 genomes]
rs9654395	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
3	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
5	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
7	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
10	chr5:43621200-43650200	Weak transcription	NHEK	skin
11	chr5:43621600-43651800	Weak transcription	HMEC	breast
12	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
15	chr5:43631600-43649200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:43631600-43664200	Weak transcription	A549	lung
18	chr5:43633000-43649200	Weak transcription	Ovary	ovary
19	chr5:43635000-43650000	Weak transcription	K562	blood
20	chr5:43635600-43649000	Weak transcription	Brain Germinal Matrix	brain
21	chr5:43635800-43649200	Weak transcription	Pancreas	Pancrea
22	chr5:43636400-43649600	Weak transcription	NHLF	lung
23	chr5:43636400-43664200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:43637800-43649200	Weak transcription	Aorta	Aorta
25	chr5:43637800-43649800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:43638200-43659200	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:43639200-43665400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:43640000-43665400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:43642600-43649400	Weak transcription	Fetal Heart	heart
30	chr5:43642800-43649000	Weak transcription	Psoas Muscle	Psoas
31	chr5:43642800-43661200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:43643200-43652000	Strong transcription	Liver	Liver
34	chr5:43643200-43661000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr5:43643200-43661400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:43643200-43661600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:43643400-43649200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:43643600-43665200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:43643800-43649200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:43643800-43664600	Strong transcription	Dnd41	blood
42	chr5:43644200-43649200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:43644200-43649200	Weak transcription	Brain Angular Gyrus	brain
44	chr5:43644200-43649200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:43644200-43660600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:43644200-43664000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:43644600-43657400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:43644600-43660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:43644600-43661000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:43644600-43661400	Strong transcription	Fetal Muscle Trunk	muscle

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