Variant report

Variant	rs848516
Chromosome Location	chr2:36764402-36764403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36763939..36768189-chr2:36769601..36773260,6	K562	blood:
2	chr2:36743424..36745842-chr2:36763620..36766499,2	K562	blood:
3	chr2:36755319..36758210-chr2:36763751..36765429,2	K562	blood:
4	chr2:36763869..36766719-chr2:36767106..36769218,2	MCF-7	breast:
5	chr2:36762904..36765006-chr2:36789182..36790793,2	K562	blood:
6	chr2:36762825..36765434-chr2:36770286..36772381,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1179496	0.81[CHB][hapmap]
rs17018986	1.00[CEU][hapmap]
rs17019000	1.00[CEU][hapmap]
rs17019002	1.00[CEU][hapmap]
rs17480811	1.00[CEU][hapmap]
rs2270333	1.00[CHB][hapmap]
rs711246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs848519	0.84[MEX][hapmap]
rs848529	1.00[CEU][hapmap]
rs848543	1.00[CEU][hapmap]
rs848609	0.94[CHB][hapmap];0.82[CHD][hapmap];0.94[MEX][hapmap]
rs848615	0.94[CHB][hapmap]
rs848618	0.94[CHB][hapmap];0.84[MEX][hapmap]
rs848634	0.81[AMR][1000 genomes]
rs848641	1.00[CHB][hapmap]
rs882842	1.00[CEU][hapmap]

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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
6	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
7	chr2:36747800-36774200	Weak transcription	Liver	Liver
8	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
9	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
10	chr2:36750000-36765200	Weak transcription	Gastric	stomach
11	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
14	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
20	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:36758200-36766200	Weak transcription	Right Atrium	heart
22	chr2:36758200-36768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:36758200-36771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:36758400-36766400	Strong transcription	HSMM	muscle
25	chr2:36758400-36774200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:36758400-36779200	Weak transcription	Brain Angular Gyrus	brain
27	chr2:36758600-36766200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:36758600-36770600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:36759400-36765200	Strong transcription	Osteobl	bone
30	chr2:36759600-36765600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:36760000-36765200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:36760000-36782000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:36760600-36769400	Weak transcription	Fetal Kidney	kidney
34	chr2:36761000-36765400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:36761800-36765200	Strong transcription	NHLF	lung
36	chr2:36762000-36769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:36762400-36766200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:36762400-36783200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:36762800-36765000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:36762800-36765200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:36762800-36766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:36763000-36764600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:36763000-36765000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:36763000-36766000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:36763000-36766200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:36763000-36766400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:36763000-36768600	Strong transcription	Adipose Nuclei	Adipose
49	chr2:36763000-36778600	Genic enhancers	HUVEC	blood vessel
50	chr2:36763200-36765200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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