Variant report

Variant	rs10183115
Chromosome Location	chr2:39737729-39737730
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39727590..39729545-chr2:39736063..39738935,2	K562	blood:
2	chr2:39730571..39735062-chr2:39737515..39740200,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10182967	1.00[EUR][1000 genomes]
rs10185836	1.00[EUR][1000 genomes]
rs10194751	1.00[EUR][1000 genomes]
rs10207329	1.00[EUR][1000 genomes]
rs13398961	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13410300	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13414685	1.00[EUR][1000 genomes]
rs13414845	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13415549	1.00[EUR][1000 genomes]
rs13430261	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28667057	1.00[EUR][1000 genomes]
rs28885808	1.00[EUR][1000 genomes]
rs6742173	1.00[EUR][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39723400-39738400	Weak transcription	Lung	lung
3	chr2:39724800-39750600	Weak transcription	Gastric	stomach
4	chr2:39730000-39737800	Enhancers	NHDF-Ad	bronchial
5	chr2:39731000-39741400	Enhancers	Fetal Stomach	stomach
6	chr2:39731200-39741400	Enhancers	Fetal Lung	lung
7	chr2:39731600-39738400	Weak transcription	Colonic Mucosa	Colon
8	chr2:39731800-39738400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:39731800-39738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:39732200-39739600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:39732400-39738200	Weak transcription	Pancreas	Pancrea
12	chr2:39732400-39738200	Weak transcription	Spleen	Spleen
13	chr2:39732400-39740400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:39732400-39740600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:39732400-39740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:39732800-39741400	Enhancers	NHLF	lung
17	chr2:39733000-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:39733000-39738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:39733000-39739200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:39733000-39739200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:39733000-39743600	Weak transcription	Hela-S3	cervix
22	chr2:39733600-39741400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:39733800-39741600	Enhancers	Fetal Kidney	kidney
24	chr2:39734200-39741400	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:39734600-39745000	Enhancers	Adipose Nuclei	Adipose
26	chr2:39734600-39746000	Enhancers	Fetal Heart	heart
27	chr2:39735000-39744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:39735400-39738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:39735600-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:39735800-39738200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:39736000-39738400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39736000-39738800	Weak transcription	Osteobl	bone
33	chr2:39736000-39740000	Weak transcription	NH-A	brain
34	chr2:39736000-39740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:39736200-39738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:39736200-39738800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:39736200-39739600	Weak transcription	HSMM	muscle
38	chr2:39736400-39737800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:39736400-39738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:39736400-39739800	Enhancers	Left Ventricle	heart
41	chr2:39736400-39741200	Enhancers	Fetal Intestine Small	intestine
42	chr2:39736400-39741600	Enhancers	Ovary	ovary
43	chr2:39736400-39741800	Enhancers	HepG2	liver
44	chr2:39736400-39742000	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:39736400-39745000	Enhancers	Right Atrium	heart
46	chr2:39736400-39745000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:39736600-39738400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:39736600-39738800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:39736600-39739000	Weak transcription	HSMMtube	muscle
50	chr2:39736600-39741800	Enhancers	Skeletal Muscle Female	skeletal muscle

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