Variant report

Variant	rs298973
Chromosome Location	chr5:37012018-37012019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13156908	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13162626	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13163996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164726	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165105	0.89[EUR][1000 genomes]
rs13176635	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13181330	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181860	0.96[EUR][1000 genomes]
rs13186745	0.92[EUR][1000 genomes]
rs13187028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1353256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16903418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17312211	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs188383	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs213513	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289216	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293753	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293754	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293775	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34079524	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34218486	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34272373	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34697946	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34807025	0.96[EUR][1000 genomes]
rs34911537	0.98[EUR][1000 genomes]
rs35127161	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35167018	0.93[EUR][1000 genomes]
rs35357341	0.95[EUR][1000 genomes]
rs35394109	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35809470	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36035695	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3776594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3899482	0.89[EUR][1000 genomes]
rs58123624	0.94[EUR][1000 genomes]
rs62654860	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6894622	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71617772	0.90[EUR][1000 genomes]
rs71617774	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73093888	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7700441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7704442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7716192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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: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	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
3	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
5	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
6	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
7	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
8	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
9	chr5:36976600-37019200	Weak transcription	NHLF	lung
10	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
11	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:36986200-37015400	Weak transcription	Colonic Mucosa	Colon
13	chr5:36986200-37015600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:36991000-37012400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:36992200-37013000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:36994600-37013200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:36995000-37012400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:36995800-37013200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:36996800-37022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:36997000-37020600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:36997600-37018200	Weak transcription	Left Ventricle	heart
23	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
24	chr5:37000400-37015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:37000800-37015200	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:37000800-37026400	Weak transcription	Ovary	ovary
27	chr5:37001200-37014800	Weak transcription	Brain Substantia Nigra	brain
28	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:37001400-37022000	Weak transcription	Fetal Heart	heart
30	chr5:37002000-37026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:37002600-37017000	Weak transcription	HSMMtube	muscle
32	chr5:37002600-37017800	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:37002600-37026400	Weak transcription	Small Intestine	intestine
34	chr5:37005200-37026400	Weak transcription	Right Ventricle	heart
35	chr5:37005200-37041800	Weak transcription	Lung	lung
36	chr5:37006800-37014800	Weak transcription	HepG2	liver
37	chr5:37009200-37016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:37009400-37016000	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:37009600-37014800	Weak transcription	NHDF-Ad	bronchial
41	chr5:37009600-37015800	Weak transcription	Brain Germinal Matrix	brain
42	chr5:37009600-37016000	Weak transcription	HMEC	breast
43	chr5:37009800-37016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:37009800-37016200	Weak transcription	HUVEC	blood vessel
45	chr5:37010000-37017000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr5:37010400-37012400	Strong transcription	Fetal Stomach	stomach
48	chr5:37010400-37014400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:37010400-37015200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:37010400-37016000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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