Variant report

Variant	rs2609353
Chromosome Location	chr1:223183018-223183019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223174781..223178345-chr1:223180899..223184230,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1048209	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2255147	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2609351	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2609352	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2609355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2789912	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2789948	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789949	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2789951	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2971990	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223169000-223184000	Weak transcription	HSMM	muscle
2	chr1:223169000-223184200	Weak transcription	HSMMtube	muscle
3	chr1:223169000-223187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:223170200-223184200	Weak transcription	NH-A	brain
5	chr1:223175200-223184200	Weak transcription	Colonic Mucosa	Colon
6	chr1:223175200-223189800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:223175600-223184000	Weak transcription	Stomach Mucosa	stomach
8	chr1:223176000-223184200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:223176800-223183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:223176800-223184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:223177200-223184600	Weak transcription	Psoas Muscle	Psoas
12	chr1:223177200-223189800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:223177800-223184200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:223178000-223184200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:223178000-223184600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:223178200-223184600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:223178200-223184600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:223178600-223184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:223178800-223184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:223178800-223184400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:223178800-223184600	Weak transcription	Aorta	Aorta
22	chr1:223178800-223184600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:223178800-223186800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:223178800-223189600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:223178800-223191400	Weak transcription	Right Atrium	heart
26	chr1:223178800-223194600	Weak transcription	Gastric	stomach
27	chr1:223179000-223184600	Weak transcription	Left Ventricle	heart
28	chr1:223179000-223184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:223179000-223189800	Weak transcription	Right Ventricle	heart
30	chr1:223179000-223190200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:223179200-223183600	Weak transcription	Fetal Stomach	stomach
32	chr1:223179200-223189800	Weak transcription	Lung	lung
33	chr1:223179200-223195400	Weak transcription	Spleen	Spleen
34	chr1:223180200-223184000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:223180200-223184600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:223180200-223184800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:223180400-223184200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:223180600-223184200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:223180600-223184400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:223180600-223185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:223180800-223183800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:223180800-223186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:223181000-223183200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:223181000-223183400	Enhancers	Fetal Kidney	kidney
45	chr1:223181000-223189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:223181200-223184200	Enhancers	HepG2	liver
47	chr1:223181200-223184400	Weak transcription	NHLF	lung
48	chr1:223181200-223184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:223181400-223183200	Weak transcription	Liver	Liver
50	chr1:223181600-223184600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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