Variant report

Variant	rs72808949
Chromosome Location	chr5:115648770-115648771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115647669..115649812-chr5:115683571..115685304,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10519452	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17139251	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17139353	0.83[ASN][1000 genomes]
rs17139524	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55742067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55857351	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56168251	1.00[AFR][1000 genomes]
rs57209700	0.81[ASN][1000 genomes]
rs57526524	1.00[AFR][1000 genomes]
rs57659470	0.92[EUR][1000 genomes]
rs58291729	1.00[AFR][1000 genomes]
rs58424191	0.89[ASN][1000 genomes]
rs58776100	1.00[AFR][1000 genomes]
rs66783056	0.90[EUR][1000 genomes]
rs67139169	0.92[EUR][1000 genomes]
rs67339497	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67412230	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72804862	0.87[EUR][1000 genomes]
rs72804864	0.87[EUR][1000 genomes]
rs72804867	0.87[EUR][1000 genomes]
rs72804869	0.87[EUR][1000 genomes]
rs72804873	0.87[EUR][1000 genomes]
rs72804875	0.87[EUR][1000 genomes]
rs72804877	0.81[EUR][1000 genomes]
rs72804882	0.87[EUR][1000 genomes]
rs72804884	0.87[EUR][1000 genomes]
rs72804885	0.87[EUR][1000 genomes]
rs72804889	0.90[EUR][1000 genomes]
rs72804891	0.87[EUR][1000 genomes]
rs72804893	0.87[EUR][1000 genomes]
rs72804896	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72804899	0.90[EUR][1000 genomes]
rs72804900	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72806907	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72806908	0.90[EUR][1000 genomes]
rs72806910	0.87[EUR][1000 genomes]
rs72806917	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72806919	0.90[EUR][1000 genomes]
rs72806920	0.90[EUR][1000 genomes]
rs72806923	0.90[EUR][1000 genomes]
rs72806926	0.90[EUR][1000 genomes]
rs72806927	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72806930	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72806931	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72806933	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72806937	0.95[EUR][1000 genomes]
rs72806941	0.95[EUR][1000 genomes]
rs72806944	0.95[EUR][1000 genomes]
rs72808904	0.95[EUR][1000 genomes]
rs72808909	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808912	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808916	0.83[ASN][1000 genomes]
rs72808917	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808922	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808927	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808928	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808929	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808930	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72808931	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72808932	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808934	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808943	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808958	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72808959	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808960	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72808961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72808964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72808969	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72808973	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72808976	1.00[AFR][1000 genomes]
rs72808979	1.00[AFR][1000 genomes]
rs72808985	1.00[AFR][1000 genomes]
rs72808987	1.00[AFR][1000 genomes]
rs72808992	1.00[AFR][1000 genomes]
rs7729344	0.89[ASN][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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:115640800-115658200	Weak transcription	Colonic Mucosa	Colon
3	chr5:115641000-115653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:115641400-115651800	Weak transcription	Esophagus	oesophagus
5	chr5:115642000-115654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:115642400-115653000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:115642600-115654400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:115642800-115650800	Weak transcription	A549	lung
9	chr5:115642800-115655800	Weak transcription	Fetal Thymus	thymus
10	chr5:115643000-115653000	Weak transcription	Right Ventricle	heart
11	chr5:115643000-115656800	Weak transcription	Gastric	stomach
12	chr5:115643200-115650200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:115643200-115660200	Weak transcription	Placenta	Placenta
14	chr5:115643200-115664200	Weak transcription	Thymus	Thymus
15	chr5:115643200-115664800	Weak transcription	Pancreas	Pancrea
16	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:115644000-115649000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:115644000-115649000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:115644000-115658600	Weak transcription	HSMM	muscle
20	chr5:115644200-115653200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:115644200-115655800	Weak transcription	HUVEC	blood vessel
22	chr5:115644400-115653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:115644400-115653200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:115644400-115654200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:115644400-115664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:115645000-115651200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:115645000-115653000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:115645200-115653000	Weak transcription	Lung	lung
30	chr5:115645200-115653000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:115645400-115649800	Weak transcription	Aorta	Aorta
32	chr5:115645400-115650000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:115645400-115650200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:115645600-115648800	Weak transcription	Adipose Nuclei	Adipose
35	chr5:115645600-115648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:115645600-115649200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:115645600-115650000	Weak transcription	Primary B cells from cord blood	blood
38	chr5:115645600-115650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:115645600-115651800	Weak transcription	Left Ventricle	heart
40	chr5:115645600-115652600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:115645600-115653400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:115646000-115653000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:115646400-115653200	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:115646400-115656000	Weak transcription	Fetal Kidney	kidney
45	chr5:115646600-115651800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:115647000-115653000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:115647200-115648800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:115647200-115649400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:115647200-115650800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:115647200-115653400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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