Variant report

Variant	rs848562
Chromosome Location	chr2:36692504-36692505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs848536	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs848551	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848557	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs848560	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848561	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36660800-36695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:36679800-36704000	Weak transcription	Fetal Brain Female	brain
3	chr2:36680400-36695600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:36683800-36704000	Weak transcription	Pancreas	Pancrea
5	chr2:36684000-36695800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:36684200-36695800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:36684800-36694000	Weak transcription	Fetal Brain Male	brain
8	chr2:36684800-36695800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:36687200-36693600	Weak transcription	Right Ventricle	heart
10	chr2:36687200-36695800	Weak transcription	Right Atrium	heart
11	chr2:36687200-36704000	Weak transcription	Gastric	stomach
12	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:36688400-36701600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:36688400-36704200	Weak transcription	Spleen	Spleen
15	chr2:36688400-36704400	Weak transcription	Colonic Mucosa	Colon
16	chr2:36688600-36695800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:36688600-36695800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:36688600-36704000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
20	chr2:36689000-36695600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:36689000-36696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:36689000-36697400	Genic enhancers	HUVEC	blood vessel
23	chr2:36689000-36698200	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr2:36689000-36699000	Weak transcription	Primary T cells from cord blood	blood
25	chr2:36689000-36704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:36689200-36693400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:36689200-36694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:36689200-36695600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:36689200-36695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:36689200-36698000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:36689200-36700400	Strong transcription	Placenta	Placenta
32	chr2:36689200-36700600	Strong transcription	HepG2	liver
33	chr2:36689200-36701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:36689200-36704000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
36	chr2:36689400-36696200	Weak transcription	Primary B cells from cord blood	blood
37	chr2:36689800-36695200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:36689800-36695200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:36689800-36695600	Strong transcription	HSMM	muscle
40	chr2:36689800-36695600	Strong transcription	HSMMtube	muscle
41	chr2:36689800-36698600	Strong transcription	Hela-S3	cervix
42	chr2:36690000-36699800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:36690200-36694200	Weak transcription	Stomach Mucosa	stomach
44	chr2:36690200-36694400	Strong transcription	HMEC	breast
45	chr2:36690200-36695000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:36690200-36695200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:36690200-36695400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:36690200-36698200	Strong transcription	NHEK	skin
49	chr2:36690200-36702000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:36690400-36693200	Weak transcription	Fetal Lung	lung

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