Variant report

Variant	rs10863613
Chromosome Location	chr1:221613298-221613299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10863614	0.81[ASN][1000 genomes]
rs10863616	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863618	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863620	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10863621	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118716	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118717	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118718	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118721	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118729	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118730	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118735	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11578091	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12081626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551670	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1599087	0.90[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1824360	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4306136	0.92[ASN][1000 genomes]
rs4308983	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4336855	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61817015	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61817017	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6674029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696579	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6696765	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7539333	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9725646	0.89[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]

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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:221608200-221615000	Enhancers	Hela-S3	cervix
4	chr1:221608600-221613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:221609000-221613800	Enhancers	Osteobl	bone
6	chr1:221609200-221613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:221609600-221613400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:221611000-221613800	Enhancers	NH-A	brain
9	chr1:221611000-221615000	Enhancers	HSMM	muscle
10	chr1:221611200-221615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:221611400-221613600	Enhancers	NHEK	skin
12	chr1:221611400-221613800	Enhancers	NHDF-Ad	bronchial
13	chr1:221611400-221614000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:221611400-221615000	Enhancers	HUVEC	blood vessel
15	chr1:221611400-221615800	Enhancers	HMEC	breast
16	chr1:221612000-221614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:221612200-221613800	Enhancers	GM12878-XiMat	blood
18	chr1:221612200-221614200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:221612200-221614400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:221612400-221613600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:221612400-221613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:221612400-221614600	Enhancers	Fetal Heart	heart
23	chr1:221612600-221613400	Enhancers	Primary T cells from cord blood	blood
24	chr1:221612600-221614000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:221612600-221614000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:221612600-221614200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:221612600-221614400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:221612600-221615800	Enhancers	HSMMtube	muscle
29	chr1:221612800-221613400	Enhancers	Fetal Lung	lung
30	chr1:221612800-221613600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:221612800-221613600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:221612800-221613600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:221612800-221613800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:221612800-221613800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:221612800-221613800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:221612800-221614000	Enhancers	Primary B cells from cord blood	blood
37	chr1:221612800-221614000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:221612800-221614000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:221612800-221614000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:221612800-221614000	Flanking Active TSS	A549	lung
41	chr1:221612800-221614200	Enhancers	Left Ventricle	heart
42	chr1:221612800-221614200	Enhancers	Stomach Mucosa	stomach
43	chr1:221612800-221614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:221612800-221614800	Enhancers	Psoas Muscle	Psoas
45	chr1:221612800-221614800	Enhancers	NHLF	lung
46	chr1:221612800-221615200	Enhancers	Fetal Stomach	stomach
47	chr1:221612800-221615200	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:221613000-221613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:221613000-221613400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:221613000-221613400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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