Variant report

Variant	rs34743741
Chromosome Location	chr3:101532448-101532449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101532284..101533308-chr3:101942511..101943750,9	MCF-7	breast:
2	chr3:101527598..101532607-chr3:101943498..101946338,5	MCF-7	breast:
3	chr3:101531865..101533240-chr3:101943943..101944930,7	MCF-7	breast:
4	chr3:101531871..101533405-chr3:101567140..101569849,2	K562	blood:
5	chr3:101527585..101537705-chr3:101566838..101571797,17	MCF-7	breast:
6	chr3:101531982..101533617-chr3:101943837..101944918,12	MCF-7	breast:
7	chr3:101530529..101534749-chr3:101945059..101947707,3	MCF-7	breast:
8	chr3:101529875..101542964-chr3:101564408..101571425,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1031710	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11706494	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11706986	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11707250	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711903	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11712309	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11712888	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714278	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11714444	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716558	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11717046	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717638	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720745	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11914318	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11919389	0.82[ASN][1000 genomes]
rs12631513	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633089	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633770	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13059470	0.82[ASN][1000 genomes]
rs13060963	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13065944	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13066768	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13068350	0.83[EUR][1000 genomes]
rs13077925	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13078652	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084113	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084432	0.82[EUR][1000 genomes]
rs13085776	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13094753	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13094911	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099674	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1460097	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17347156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17347644	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1963961	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963962	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290859	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2318090	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34063583	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161138	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34181125	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34263427	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34376498	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34648996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34883763	0.81[ASN][1000 genomes]
rs34947019	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34963630	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35117343	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35315807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35799195	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35810977	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850993	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36002990	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4342086	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55859364	0.81[ASN][1000 genomes]
rs58658478	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61396602	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62284198	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62284199	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9830943	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34743741	NXPE3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101498800-101533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:101498800-101546200	Weak transcription	Esophagus	oesophagus
3	chr3:101499000-101533000	Weak transcription	Fetal Intestine Large	intestine
4	chr3:101502600-101540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:101502600-101540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:101504800-101533600	Weak transcription	Pancreas	Pancrea
7	chr3:101504800-101546000	Weak transcription	Colonic Mucosa	Colon
8	chr3:101505400-101533600	Weak transcription	Right Atrium	heart
9	chr3:101511000-101536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:101515200-101540200	Weak transcription	NHLF	lung
11	chr3:101515400-101535800	Weak transcription	NHEK	skin
12	chr3:101515400-101546000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:101516000-101546000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:101520400-101546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:101520800-101535800	Weak transcription	Aorta	Aorta
16	chr3:101520800-101535800	Weak transcription	Spleen	Spleen
17	chr3:101520800-101536200	Weak transcription	Right Ventricle	heart
18	chr3:101520800-101539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:101520800-101540200	Weak transcription	Lung	lung
20	chr3:101520800-101546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:101521000-101532800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:101521000-101533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:101521000-101535800	Weak transcription	Thymus	Thymus
24	chr3:101521200-101533800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:101521200-101535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:101521200-101546200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:101521400-101535800	Weak transcription	Brain Germinal Matrix	brain
28	chr3:101521400-101535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:101521400-101536000	Weak transcription	Fetal Brain Female	brain
30	chr3:101522000-101535800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:101522200-101535400	Weak transcription	HSMMtube	muscle
32	chr3:101522200-101540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:101522800-101535800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:101522800-101535800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:101522800-101535800	Weak transcription	Ovary	ovary
36	chr3:101522800-101536200	Weak transcription	Fetal Stomach	stomach
37	chr3:101522800-101540200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:101523000-101535800	Weak transcription	Fetal Brain Male	brain
39	chr3:101523200-101533000	Weak transcription	Stomach Mucosa	stomach
40	chr3:101523200-101536200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:101523400-101540400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:101523600-101533000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:101523600-101535600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:101523800-101540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:101525600-101533000	Weak transcription	HepG2	liver
46	chr3:101525800-101540200	Weak transcription	Osteobl	bone
47	chr3:101526400-101535800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:101526600-101535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:101526800-101535800	Weak transcription	Left Ventricle	heart
50	chr3:101527400-101535600	Weak transcription	Fetal Muscle Leg	muscle

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