Variant report

Variant	rs990385
Chromosome Location	chr5:145155729-145155730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10038010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052642	0.90[EUR][1000 genomes]
rs13359479	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1549899	1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6580385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6580386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6888614	1.00[JPT][hapmap]
rs7703916	1.00[JPT][hapmap]
rs7725181	0.81[EUR][1000 genomes]
rs7737990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145111400-145166800	Weak transcription	K562	blood
4	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
5	chr5:145131000-145156800	Weak transcription	Gastric	stomach
6	chr5:145138000-145157800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:145139000-145165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:145140000-145157800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:145140400-145157200	Weak transcription	Left Ventricle	heart
10	chr5:145140600-145156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:145141200-145194400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:145142400-145162400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:145144200-145156800	Weak transcription	Right Ventricle	heart
14	chr5:145147400-145156000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:145147400-145157000	Weak transcription	Fetal Stomach	stomach
16	chr5:145147400-145161800	Weak transcription	Lung	lung
17	chr5:145147600-145156800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:145148800-145166600	Weak transcription	Fetal Heart	heart
19	chr5:145150200-145156800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:145152000-145167200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:145152200-145171000	Weak transcription	Stomach Mucosa	stomach
22	chr5:145153800-145156000	Enhancers	Ovary	ovary
23	chr5:145153800-145157200	Enhancers	Hela-S3	cervix
24	chr5:145154200-145157200	Enhancers	HSMMtube	muscle
25	chr5:145154200-145157800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:145154400-145156800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:145154400-145157000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:145154400-145157400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:145154400-145159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:145154600-145156000	Enhancers	Aorta	Aorta
31	chr5:145154600-145157000	Enhancers	Osteobl	bone
32	chr5:145154600-145157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:145154600-145157800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:145154600-145166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:145154600-145169600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:145154800-145155800	Enhancers	A549	lung
37	chr5:145154800-145156400	Enhancers	Fetal Lung	lung
38	chr5:145154800-145157200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:145154800-145157200	Enhancers	Adipose Nuclei	Adipose
40	chr5:145155000-145156000	Enhancers	Brain Substantia Nigra	brain
41	chr5:145155000-145156800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:145155000-145156800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:145155000-145157000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:145155000-145157000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:145155000-145157000	Enhancers	HSMM	muscle
46	chr5:145155000-145157000	Enhancers	NH-A	brain
47	chr5:145155000-145157200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:145155000-145157400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:145155000-145157400	Enhancers	HMEC	breast
50	chr5:145155000-145158800	Enhancers	Muscle Satellite Cultured Cells	--

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