Variant report

Variant	rs37569
Chromosome Location	chr5:58839567-58839568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10805516	0.84[ASN][1000 genomes]
rs159194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs159196	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs159197	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs177077	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs186078	0.97[ASN][1000 genomes]
rs190936	0.84[ASN][1000 genomes]
rs294477	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs294478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs294479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs294481	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs294482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs294483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs294484	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs294485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs294486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs294492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs294494	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs294495	0.89[ASN][1000 genomes]
rs294496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs294497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs294498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs294499	0.93[ASN][1000 genomes]
rs294500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs294501	0.92[ASN][1000 genomes]
rs294502	0.91[ASN][1000 genomes]
rs295943	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs295944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs295946	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs295948	0.88[ASN][1000 genomes]
rs295950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295951	0.88[ASN][1000 genomes]
rs295952	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs295953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295955	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs295956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295957	0.88[ASN][1000 genomes]
rs295958	0.87[ASN][1000 genomes]
rs295960	0.87[ASN][1000 genomes]
rs295962	0.84[ASN][1000 genomes]
rs295963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295965	0.84[ASN][1000 genomes]
rs295966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295969	0.84[ASN][1000 genomes]
rs295970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs295971	0.84[ASN][1000 genomes]
rs295972	0.84[ASN][1000 genomes]
rs295973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs295974	0.84[ASN][1000 genomes]
rs295975	0.84[ASN][1000 genomes]
rs295978	0.91[ASN][1000 genomes]
rs295979	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs295980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs298014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs298016	0.84[ASN][1000 genomes]
rs298017	0.84[ASN][1000 genomes]
rs298025	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298027	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298028	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298029	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298030	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298032	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298033	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs298034	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs298038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs298039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs298040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298046	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs298048	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs298051	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs298052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs298053	0.84[ASN][1000 genomes]
rs37570	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs37571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462189	chr5:58830145-58879822	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598255	chr5:58830145-58879822	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58834600-58840600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:58834600-58840800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:58835400-58840600	Enhancers	Brain Germinal Matrix	brain
4	chr5:58835600-58840600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58835800-58840200	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:58835800-58840200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:58835800-58840400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:58835800-58840400	Enhancers	Brain Angular Gyrus	brain
9	chr5:58835800-58840400	Enhancers	Brain Anterior Caudate	brain
10	chr5:58835800-58840400	Enhancers	Brain Substantia Nigra	brain
11	chr5:58836000-58840400	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:58836600-58854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:58836800-58839600	Weak transcription	Fetal Brain Female	brain
14	chr5:58836800-58857400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:58837200-58840400	Enhancers	Stomach Mucosa	stomach
16	chr5:58837200-58840600	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:58837200-58840600	Enhancers	Hela-S3	cervix
18	chr5:58837400-58839600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:58837400-58840600	Enhancers	Colon Smooth Muscle	Colon
20	chr5:58837400-58840800	Enhancers	Fetal Kidney	kidney
21	chr5:58837600-58840200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:58837600-58840600	Enhancers	Fetal Muscle Leg	muscle
23	chr5:58837600-58841400	Enhancers	Fetal Lung	lung
24	chr5:58837800-58840000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:58837800-58840200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:58837800-58840600	Enhancers	Fetal Stomach	stomach
27	chr5:58838000-58840000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:58838000-58840000	Enhancers	Aorta	Aorta
29	chr5:58838200-58840200	Enhancers	Adipose Nuclei	Adipose
30	chr5:58838200-58840200	Enhancers	Fetal Brain Male	brain
31	chr5:58838200-58843600	Weak transcription	Psoas Muscle	Psoas
32	chr5:58838400-58840200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:58838400-58840400	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:58838600-58840400	Enhancers	Liver	Liver
35	chr5:58838600-58840400	Enhancers	Fetal Heart	heart
36	chr5:58838600-58840600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:58838600-58840600	Enhancers	Small Intestine	intestine
38	chr5:58838600-58840600	Enhancers	HSMMtube	muscle
39	chr5:58838800-58839600	Enhancers	Gastric	stomach
40	chr5:58838800-58840000	Enhancers	HSMM	muscle
41	chr5:58838800-58840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:58838800-58840400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:58838800-58840400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:58838800-58840400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:58839000-58840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:58839000-58840000	Enhancers	NH-A	brain
47	chr5:58839000-58840200	Enhancers	Fetal Intestine Small	intestine
48	chr5:58839000-58840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:58839200-58840200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:58839200-58840400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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