Variant report

Variant	rs2615076
Chromosome Location	chr1:225935497-225935498
allele	C/T
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:9)

rs_ID	r²[population]
rs12141610	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126345	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2487691	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2615067	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653666	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653669	0.84[ASN][1000 genomes]
rs7532460	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7535106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898848	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225925400-225938200	Weak transcription	Spleen	Spleen
2	chr1:225925800-225938000	Weak transcription	Lung	lung
3	chr1:225932600-225935800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:225932800-225938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:225933000-225936000	Enhancers	Fetal Brain Male	brain
6	chr1:225933600-225935800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:225933800-225935800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:225934000-225936000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:225934400-225936400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:225934600-225938600	Weak transcription	Gastric	stomach
11	chr1:225934800-225935600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:225934800-225935600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:225934800-225935600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:225934800-225935600	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:225934800-225935600	Enhancers	Fetal Intestine Small	intestine
16	chr1:225934800-225935600	Enhancers	Fetal Stomach	stomach
17	chr1:225934800-225935600	Enhancers	Pancreas	Pancrea
18	chr1:225934800-225935600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:225934800-225935600	Enhancers	Right Atrium	heart
20	chr1:225934800-225935600	Enhancers	Stomach Mucosa	stomach
21	chr1:225934800-225935800	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:225934800-225935800	Enhancers	Left Ventricle	heart
23	chr1:225934800-225935800	Enhancers	NH-A	brain
24	chr1:225934800-225935800	Enhancers	NHDF-Ad	bronchial
25	chr1:225934800-225935800	Enhancers	NHLF	lung
26	chr1:225934800-225936000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:225934800-225936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:225934800-225936000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:225934800-225936000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:225934800-225936000	Enhancers	NHEK	skin
31	chr1:225934800-225936200	Enhancers	Esophagus	oesophagus
32	chr1:225934800-225936400	Weak transcription	Brain Anterior Caudate	brain
33	chr1:225934800-225936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:225934800-225936600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:225934800-225936600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:225934800-225936600	Enhancers	Adipose Nuclei	Adipose
37	chr1:225934800-225936600	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:225934800-225936600	Enhancers	Fetal Muscle Leg	muscle
39	chr1:225934800-225936600	Enhancers	Osteobl	bone
40	chr1:225934800-225936800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:225934800-225938000	Weak transcription	Ovary	ovary
42	chr1:225934800-225938200	Weak transcription	Psoas Muscle	Psoas
43	chr1:225934800-225938400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:225934800-225938800	Weak transcription	Fetal Kidney	kidney
45	chr1:225934800-225939400	Weak transcription	Fetal Brain Female	brain
46	chr1:225934800-225943200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:225935000-225935600	Enhancers	Colonic Mucosa	Colon
48	chr1:225935000-225935600	Enhancers	Fetal Thymus	thymus
49	chr1:225935000-225935600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:225935000-225935800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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