Variant report

Variant	rs62263406
Chromosome Location	chr3:119165162-119165163
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	chr3:119164522..119167795-chr3:119169388..119171405,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11706028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11706042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11707612	0.82[ASN][1000 genomes]
rs11709468	0.81[ASN][1000 genomes]
rs11714738	0.85[ASN][1000 genomes]
rs11714843	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11719448	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11720158	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11720423	0.87[ASN][1000 genomes]
rs1599795	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1599796	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17203104	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17203188	0.85[ASN][1000 genomes]
rs1938	0.81[ASN][1000 genomes]
rs1961132	0.85[ASN][1000 genomes]
rs2276713	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2280670	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2293371	0.85[ASN][1000 genomes]
rs34090996	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3732418	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755579	0.85[ASN][1000 genomes]
rs4447803	0.85[ASN][1000 genomes]
rs4461452	0.80[ASN][1000 genomes]
rs4687851	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687854	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688002	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688009	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688011	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688013	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57506457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59024323	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60938951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62263399	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62263404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263444	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62264483	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62264487	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7610335	0.80[ASN][1000 genomes]
rs9289131	0.85[ASN][1000 genomes]
rs9832341	0.85[ASN][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking 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 target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119147000-119179000	Strong transcription	Osteobl	bone
2	chr3:119147200-119180400	Weak transcription	Stomach Mucosa	stomach
3	chr3:119147400-119179200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:119148800-119175400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:119148800-119180400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:119149400-119179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:119149400-119181000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:119149400-119181600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:119149600-119172600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:119150200-119179000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:119150400-119180200	Strong transcription	Fetal Intestine Large	intestine
12	chr3:119150600-119175400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:119150600-119180800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:119152000-119178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:119152000-119179800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:119152200-119178800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:119152200-119179400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:119154000-119181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:119154400-119171400	Strong transcription	Fetal Stomach	stomach
20	chr3:119156400-119165400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:119157000-119173000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:119157000-119177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:119157200-119165200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:119157200-119165400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:119158000-119180000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:119158800-119180000	Strong transcription	Adipose Nuclei	Adipose
27	chr3:119158800-119180000	Strong transcription	Dnd41	blood
28	chr3:119159800-119166000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:119159800-119169200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:119159800-119179400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:119159800-119180800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:119160400-119169000	Strong transcription	Left Ventricle	heart
33	chr3:119160400-119179400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr3:119160400-119180200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr3:119160600-119165200	Weak transcription	Esophagus	oesophagus
36	chr3:119160600-119180000	Strong transcription	HUVEC	blood vessel
37	chr3:119160600-119180800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:119160800-119168600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:119160800-119173000	Strong transcription	A549	lung
40	chr3:119160800-119179400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:119161000-119166200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:119161000-119166200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:119161000-119179000	Strong transcription	Liver	Liver
44	chr3:119161000-119180800	Weak transcription	Fetal Brain Male	brain
45	chr3:119161200-119179600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:119161600-119165200	Weak transcription	Brain Substantia Nigra	brain
47	chr3:119161600-119165200	Weak transcription	Right Ventricle	heart
48	chr3:119161600-119166400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:119161600-119166600	Weak transcription	NHEK	skin
50	chr3:119161800-119167400	Weak transcription	Aorta	Aorta

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