Variant report

Variant	rs72736708
Chromosome Location	chr5:37009765-37009766
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	chr5:36994814..36997179-chr5:37008885..37010934,2	K562	blood:
2	chr5:37009245..37010939-chr5:37023761..37025926,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs55702678	0.87[EUR][1000 genomes]
rs55712022	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734610	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734672	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734681	0.83[EUR][1000 genomes]
rs72734682	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736717	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736727	0.87[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736738	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS 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
12	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
13	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
14	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
15	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
16	nsv881592	chr5:36954812-37027258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
17	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
18	nsv881136	chr5:36976160-37029885	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	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
20	nsv880502	chr5:37002638-37023898	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
3	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
6	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
7	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
8	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
9	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
10	chr5:36976400-37010600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:36976600-37019200	Weak transcription	NHLF	lung
12	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
13	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:36986200-37015400	Weak transcription	Colonic Mucosa	Colon
15	chr5:36986200-37015600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:36991000-37012400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:36992200-37013000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:36993000-37011800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:36993200-37011800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:36994000-37011800	Strong transcription	Dnd41	blood
22	chr5:36994600-37011600	Strong transcription	Placenta	Placenta
23	chr5:36994600-37013200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:36995000-37011600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:36995000-37011600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:36995000-37011800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:36995000-37011800	Strong transcription	Adipose Nuclei	Adipose
28	chr5:36995000-37011800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:36995000-37012400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:36995200-37011800	Strong transcription	HSMM	muscle
31	chr5:36995800-37011000	Strong transcription	GM12878-XiMat	blood
32	chr5:36995800-37011600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:36995800-37011600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:36995800-37011600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:36995800-37013200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:36996200-37011600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:36996200-37011800	Strong transcription	Fetal Thymus	thymus
38	chr5:36996800-37022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:36997000-37011400	Weak transcription	Gastric	stomach
40	chr5:36997000-37020600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:36997600-37018200	Weak transcription	Left Ventricle	heart
42	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
43	chr5:36999000-37011800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:36999000-37011800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:36999800-37011600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:37000000-37011600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:37000200-37011800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:37000400-37015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:37000800-37010400	Weak transcription	Thymus	Thymus
50	chr5:37000800-37015200	Weak transcription	Fetal Muscle Leg	muscle

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