Variant report

Variant	rs59987610
Chromosome Location	chr3:121407365-121407366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12386356	0.91[EUR][1000 genomes]
rs9637385	0.94[ASN][1000 genomes]
rs9837315	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9841861	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9849087	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9859702	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9861782	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9863007	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9968051	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats 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	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
6	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121380600-121413800	Weak transcription	Stomach Mucosa	stomach
2	chr3:121386600-121447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:121396000-121409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:121396200-121408600	Weak transcription	HUVEC	blood vessel
5	chr3:121396800-121435600	Weak transcription	Psoas Muscle	Psoas
6	chr3:121398800-121408800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:121399000-121409400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:121399000-121409600	Weak transcription	Colonic Mucosa	Colon
9	chr3:121399000-121410000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:121399000-121415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:121399000-121425400	Weak transcription	Pancreas	Pancrea
12	chr3:121399000-121426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:121399000-121440400	Weak transcription	K562	blood
14	chr3:121399200-121410200	Weak transcription	Thymus	Thymus
15	chr3:121399200-121410600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:121399200-121410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:121399200-121416800	Weak transcription	Fetal Stomach	stomach
18	chr3:121399400-121409800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:121399600-121410000	Weak transcription	Hela-S3	cervix
20	chr3:121400200-121409000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:121400200-121409600	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:121400400-121408600	Weak transcription	Right Ventricle	heart
23	chr3:121400400-121408600	Weak transcription	NH-A	brain
24	chr3:121400600-121409600	Weak transcription	Fetal Heart	heart
25	chr3:121400800-121408600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:121400800-121410000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:121400800-121410800	Weak transcription	Brain Substantia Nigra	brain
28	chr3:121400800-121411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:121401000-121408600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:121401000-121408600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:121401000-121408600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:121401000-121408600	Weak transcription	NHLF	lung
33	chr3:121401000-121409200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:121401000-121409600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:121401000-121409600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:121401200-121408800	Weak transcription	Small Intestine	intestine
37	chr3:121401200-121409600	Weak transcription	Left Ventricle	heart
38	chr3:121401200-121410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:121401200-121410600	Weak transcription	Fetal Brain Male	brain
40	chr3:121401200-121410800	Weak transcription	Lung	lung
41	chr3:121401200-121416800	Weak transcription	Spleen	Spleen
42	chr3:121401200-121429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:121401200-121434000	Weak transcription	Gastric	stomach
44	chr3:121401400-121408600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:121401400-121408600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:121401400-121410000	Weak transcription	NHEK	skin
47	chr3:121401600-121408600	Weak transcription	Fetal Thymus	thymus
48	chr3:121401800-121408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:121401800-121409600	Weak transcription	Osteobl	bone
50	chr3:121402000-121409600	Weak transcription	HMEC	breast

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