Variant report

Variant	rs2897585
Chromosome Location	chr13:48974041-48974042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17071516	0.86[AFR][1000 genomes]
rs3092869	1.00[AFR][1000 genomes]
rs3092885	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151427	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151443	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151444	1.00[AFR][1000 genomes]
rs4151504	1.00[YRI][hapmap]
rs4151518	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4151607	0.87[YRI][hapmap]
rs9332078	0.85[YRI][hapmap]
rs9332263	0.86[AFR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48920200-48974400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:48925200-48974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr13:48925400-48976400	Weak transcription	Ovary	ovary
5	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
6	chr13:48936000-48974600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
8	chr13:48944000-48974400	Weak transcription	Brain Anterior Caudate	brain
9	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
10	chr13:48945400-48974400	Weak transcription	Small Intestine	intestine
11	chr13:48954800-48975000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr13:48956200-48976600	Weak transcription	Liver	Liver
13	chr13:48964000-48974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:48965200-48974400	Weak transcription	Fetal Heart	heart
15	chr13:48966400-48974200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:48966400-48986000	Weak transcription	Lung	lung
17	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
18	chr13:48967600-48974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:48968200-48976400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr13:48968400-48976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:48968800-48974200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr13:48968800-48974800	Weak transcription	Primary T cells from cord blood	blood
23	chr13:48968800-48976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:48968800-48977800	Weak transcription	Spleen	Spleen
25	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr13:48969000-48974400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine
28	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:48969200-48974400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:48969200-48975000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr13:48969200-48975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:48969200-48976400	Weak transcription	Fetal Thymus	thymus
33	chr13:48969200-48976600	Weak transcription	Left Ventricle	heart
34	chr13:48969200-48976600	Weak transcription	Thymus	Thymus
35	chr13:48969200-48978000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:48969200-48978000	Weak transcription	Esophagus	oesophagus
37	chr13:48969200-48984200	Weak transcription	Fetal Stomach	stomach
38	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:48970000-48974800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr13:48970200-48974400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:48970200-48977600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:48970400-48976400	Weak transcription	Fetal Muscle Leg	muscle
43	chr13:48970600-48974600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:48970600-48984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:48971200-48976800	Enhancers	HepG2	liver
46	chr13:48971600-48977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:48971800-48974400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:48971800-48975400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:48972000-48974200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr13:48972000-48974800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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