Variant report

Variant	rs12585742
Chromosome Location	chr13:48979623-48979624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12583617	1.00[EUR][1000 genomes]
rs12583644	1.00[EUR][1000 genomes]
rs12585384	1.00[EUR][1000 genomes]
rs12857866	1.00[EUR][1000 genomes]
rs3825419	0.83[AFR][1000 genomes]
rs4151472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151479	1.00[EUR][1000 genomes]
rs4151524	1.00[EUR][1000 genomes]
rs4151598	1.00[EUR][1000 genomes]
rs4151602	1.00[EUR][1000 genomes]
rs4151613	1.00[EUR][1000 genomes]
rs55686933	1.00[EUR][1000 genomes]
rs57394470	1.00[EUR][1000 genomes]
rs6650379	1.00[EUR][1000 genomes]
rs73479216	1.00[EUR][1000 genomes]
rs73479220	1.00[EUR][1000 genomes]
rs73495018	1.00[EUR][1000 genomes]
rs73495037	1.00[EUR][1000 genomes]
rs74074915	1.00[EUR][1000 genomes]
rs74074916	1.00[EUR][1000 genomes]
rs74074942	1.00[EUR][1000 genomes]
rs74074944	1.00[EUR][1000 genomes]
rs74074946	1.00[EUR][1000 genomes]
rs74074951	1.00[EUR][1000 genomes]
rs74077638	1.00[EUR][1000 genomes]
rs9331984	1.00[EUR][1000 genomes]
rs9331994	1.00[EUR][1000 genomes]
rs9332033	1.00[EUR][1000 genomes]
rs9332044	1.00[EUR][1000 genomes]
rs9332070	1.00[EUR][1000 genomes]
rs9332085	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
3	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
4	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
5	chr13:48966400-48986000	Weak transcription	Lung	lung
6	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
7	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine
9	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:48969200-48984200	Weak transcription	Fetal Stomach	stomach
11	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:48970600-48984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:48972000-48980000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:48972600-48982600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr13:48973800-48984000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr13:48974600-48986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:48975200-48979800	Weak transcription	Fetal Heart	heart
18	chr13:48975200-48980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:48975200-48983800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:48975200-48984000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:48975200-48984200	Weak transcription	Fetal Intestine Small	intestine
22	chr13:48975200-48985400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:48975400-48983000	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:48975400-48984200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:48975600-48980800	Weak transcription	HSMM	muscle
26	chr13:48975600-48983000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:48975600-48984000	Weak transcription	Stomach Mucosa	stomach
28	chr13:48975600-48985200	Weak transcription	NH-A	brain
29	chr13:48975800-48980200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:48975800-48983000	Weak transcription	Fetal Kidney	kidney
31	chr13:48975800-48984000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:48976000-48984200	Weak transcription	Primary B cells from cord blood	blood
33	chr13:48976000-48984200	Weak transcription	A549	lung
34	chr13:48976000-48984200	Weak transcription	NHLF	lung
35	chr13:48976000-48984400	Weak transcription	HSMMtube	muscle
36	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
37	chr13:48976800-48982000	Weak transcription	HepG2	liver
38	chr13:48976800-48983800	Weak transcription	Ovary	ovary
39	chr13:48977000-48984000	Weak transcription	Liver	Liver
40	chr13:48977000-48984000	Weak transcription	HUVEC	blood vessel
41	chr13:48977400-48979800	Active TSS	Right Atrium	heart
42	chr13:48977600-48980600	Weak transcription	Left Ventricle	heart
43	chr13:48977600-48983000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr13:48977600-48984000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:48977600-48984200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr13:48977800-48980000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:48977800-48982600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:48977800-48983000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:48977800-48983400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:48977800-48983800	Weak transcription	HMEC	breast

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