Variant report

Variant	rs71417219
Chromosome Location	chr2:153229729-153229730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10497100	0.92[EUR][1000 genomes]
rs10931062	0.92[EUR][1000 genomes]
rs12185697	0.92[EUR][1000 genomes]
rs13004473	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13004494	0.87[EUR][1000 genomes]
rs13022422	0.92[EUR][1000 genomes]
rs13023506	0.92[EUR][1000 genomes]
rs13023659	0.92[EUR][1000 genomes]
rs16830964	0.87[EUR][1000 genomes]
rs16830971	0.92[EUR][1000 genomes]
rs16830977	0.92[EUR][1000 genomes]
rs16831007	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831018	0.81[EUR][1000 genomes]
rs34581620	0.92[EUR][1000 genomes]
rs34635752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35403838	0.87[EUR][1000 genomes]
rs35589946	0.92[EUR][1000 genomes]
rs35771051	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937195	0.87[EUR][1000 genomes]
rs4664101	0.85[EUR][1000 genomes]
rs4664104	0.92[EUR][1000 genomes]
rs4664571	0.84[EUR][1000 genomes]
rs4664574	0.92[EUR][1000 genomes]
rs57720755	0.92[EUR][1000 genomes]
rs71417220	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73967829	0.92[EUR][1000 genomes]
rs73967831	0.92[EUR][1000 genomes]
rs73970604	0.87[EUR][1000 genomes]
rs7573890	0.92[EUR][1000 genomes]
rs7574699	0.86[EUR][1000 genomes]
rs7588008	0.92[EUR][1000 genomes]
rs7602756	0.87[EUR][1000 genomes]
rs7602975	0.87[EUR][1000 genomes]
rs7606289	0.92[EUR][1000 genomes]
rs7606397	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
6	chr2:153222600-153230600	Enhancers	Brain Hippocampus Middle	brain
7	chr2:153223400-153237000	Weak transcription	Right Atrium	heart
8	chr2:153224200-153234600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:153224600-153233000	Weak transcription	Pancreas	Pancrea
10	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
11	chr2:153225400-153232200	Enhancers	Brain Substantia Nigra	brain
12	chr2:153225800-153232200	Enhancers	Psoas Muscle	Psoas
13	chr2:153226200-153233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:153226200-153233200	Weak transcription	Hela-S3	cervix
15	chr2:153226200-153237000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:153226200-153237000	Weak transcription	Aorta	Aorta
17	chr2:153226200-153237000	Weak transcription	Left Ventricle	heart
18	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
19	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
20	chr2:153226400-153231400	Weak transcription	NHEK	skin
21	chr2:153226400-153232600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:153226400-153232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:153226600-153232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:153226600-153232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:153226600-153232800	Weak transcription	HMEC	breast
26	chr2:153226800-153233000	Weak transcription	Gastric	stomach
27	chr2:153226800-153236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:153226800-153237000	Weak transcription	NHLF	lung
29	chr2:153226800-153240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:153227000-153237200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:153227000-153242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:153227400-153232000	Enhancers	Brain Angular Gyrus	brain
33	chr2:153227400-153232800	Weak transcription	A549	lung
34	chr2:153227800-153231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153227800-153232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:153227800-153232800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:153227800-153239400	Weak transcription	NHDF-Ad	bronchial
38	chr2:153228000-153229800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:153228000-153231400	Weak transcription	Lung	lung
40	chr2:153228000-153233000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:153228000-153236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:153228800-153230800	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:153228800-153231000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:153228800-153234200	Enhancers	Brain Anterior Caudate	brain
45	chr2:153229000-153230400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:153229200-153233000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:153229200-153236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:153229400-153230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:153229400-153233400	Weak transcription	Colon Smooth Muscle	Colon

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