Variant report

Variant	rs62268732
Chromosome Location	chr3:121370455-121370456
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11707716	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716984	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11719458	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721318	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13072618	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074834	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13077135	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13083794	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13087578	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090660	0.89[EUR][1000 genomes]
rs1573819	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17691170	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2070180	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33988592	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34086988	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34667636	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35988617	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36142735	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3732408	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772128	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3772130	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55643643	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55657471	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56314138	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62268734	0.92[ASN][1000 genomes]
rs66653099	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6791046	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7427165	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic 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	15 gene(s)	inside rSNPs	diseases
6	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv3334884	chr3:121370352-121370786	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs62268732	IQCB1	Cis_1M	lymphoblastoid	RTeQTL
rs62268732	IQCB1	cis	Whole Blood	GTEx
rs62268732	HCLS1	cis	Whole Blood	GTEx
rs62268732	EAF2	Cis_1M	lymphoblastoid	RTeQTL
rs62268732	SLC15A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
2	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
3	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
4	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
5	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
6	chr3:121351400-121381400	Weak transcription	Gastric	stomach
7	chr3:121353400-121376000	Weak transcription	Lung	lung
8	chr3:121354000-121381000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:121356200-121378200	Weak transcription	Colonic Mucosa	Colon
10	chr3:121356800-121379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:121362200-121379400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:121362600-121379600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:121364000-121377000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:121364200-121373600	Weak transcription	Thymus	Thymus
15	chr3:121364200-121375800	Weak transcription	Spleen	Spleen
16	chr3:121364200-121377000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:121364200-121378200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:121364200-121378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:121364600-121371600	Weak transcription	Placenta	Placenta
20	chr3:121366000-121372200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:121366000-121372400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr3:121366000-121372400	Strong transcription	Primary T cells from cord blood	blood
23	chr3:121366000-121373400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:121366200-121373400	Strong transcription	Primary B cells from cord blood	blood
25	chr3:121366200-121373600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:121366200-121373600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:121366800-121373400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:121367200-121371800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr3:121367400-121379000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:121367400-121381800	Weak transcription	Pancreas	Pancrea
31	chr3:121367600-121373600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:121367600-121377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:121367600-121378000	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:121367600-121378200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:121367600-121378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:121367800-121372400	Weak transcription	Liver	Liver
37	chr3:121367800-121375000	Weak transcription	Adipose Nuclei	Adipose
38	chr3:121367800-121378800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:121368400-121377600	Weak transcription	Left Ventricle	heart
40	chr3:121368600-121371600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr3:121368600-121372400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:121368800-121370600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:121368800-121371000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:121368800-121380000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:121369000-121372600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:121369000-121373600	Strong transcription	Fetal Thymus	thymus
47	chr3:121369200-121370800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:121369200-121370800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr3:121369400-121372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:121369400-121376200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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