Variant report

Variant	rs72736717
Chromosome Location	chr5:37034907-37034908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37024346..37029453-chr5:37031923..37035955,4	K562	blood:
2	chr5:37027894..37031584-chr5:37032093..37035843,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55702678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732594	0.90[EUR][1000 genomes]
rs72732600	0.90[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734681	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72734702	0.81[EUR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736723	0.81[EUR][1000 genomes]
rs72736727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	esv1803948	chr5:37016522-37047066	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37005200-37041800	Weak transcription	Lung	lung
8	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:37012400-37064600	Weak transcription	Gastric	stomach
13	chr5:37014200-37035400	Strong transcription	Dnd41	blood
14	chr5:37014200-37036000	Strong transcription	Adipose Nuclei	Adipose
15	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:37014600-37036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:37014800-37036000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:37016800-37037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:37017000-37041200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
22	chr5:37021200-37035000	Weak transcription	Brain Angular Gyrus	brain
23	chr5:37022400-37063600	Weak transcription	NHEK	skin
24	chr5:37023800-37050600	Weak transcription	Fetal Heart	heart
25	chr5:37025200-37035800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:37025400-37038600	Weak transcription	Colonic Mucosa	Colon
27	chr5:37026000-37042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:37026800-37038400	Weak transcription	HUVEC	blood vessel
29	chr5:37026800-37038600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:37026800-37043800	Weak transcription	Fetal Brain Female	brain
31	chr5:37027000-37037600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:37027000-37048200	Weak transcription	HMEC	breast
33	chr5:37027000-37049000	Weak transcription	Pancreas	Pancrea
34	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:37027200-37038000	Weak transcription	NHLF	lung
36	chr5:37027200-37045200	Weak transcription	Ovary	ovary
37	chr5:37027400-37037800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:37027600-37043200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:37027600-37045600	Weak transcription	HSMMtube	muscle
40	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
41	chr5:37027800-37039800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:37028000-37042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:37028600-37049000	Weak transcription	Thymus	Thymus
44	chr5:37028800-37041400	Weak transcription	Fetal Stomach	stomach
45	chr5:37028800-37041600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:37028800-37042200	Weak transcription	Spleen	Spleen
47	chr5:37029200-37045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:37029400-37035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:37029400-37035200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:37029400-37037800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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