Variant report

Variant	rs35315807
Chromosome Location	chr3:101535347-101535348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101535073..101537539-chr3:101941440..101943905,2	MCF-7	breast:
2	chr3:101535173..101538020-chr3:101901417..101903386,2	MCF-7	breast:
3	chr3:101532469..101535630-chr3:101577445..101579384,3	MCF-7	breast:
4	chr3:101527585..101537705-chr3:101566838..101571797,17	MCF-7	breast:
5	chr3:101534220..101535747-chr3:101538217..101540882,2	MCF-7	breast:
6	chr3:101529875..101542964-chr3:101564408..101571425,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1031710	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11706494	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11706986	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11707250	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711903	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712309	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11712888	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11714278	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11714444	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11716558	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11717046	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11717638	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11720745	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11914318	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11919389	0.81[ASN][1000 genomes]
rs12631513	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12633089	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12633770	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13059470	0.81[ASN][1000 genomes]
rs13060963	0.82[EUR][1000 genomes]
rs13065944	0.83[EUR][1000 genomes]
rs13066768	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13068350	0.83[EUR][1000 genomes]
rs13077925	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13078652	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13084113	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs13094753	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13094911	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13096323	0.81[ASN][1000 genomes]
rs13099674	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1460097	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17347156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17347644	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963961	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1963962	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290859	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318090	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34063583	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34161138	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34181125	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34263427	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34376498	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34648996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34743741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34947019	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34963630	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35117343	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35799195	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35810977	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35850993	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36002990	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4342086	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55654108	0.81[ASN][1000 genomes]
rs58658478	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61396602	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62284198	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62284199	0.95[EUR][1000 genomes];0.84[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
rs35315807	NXPE3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101498800-101546200	Weak transcription	Esophagus	oesophagus
2	chr3:101502600-101540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:101502600-101540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:101504800-101546000	Weak transcription	Colonic Mucosa	Colon
5	chr3:101511000-101536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:101515200-101540200	Weak transcription	NHLF	lung
7	chr3:101515400-101535800	Weak transcription	NHEK	skin
8	chr3:101515400-101546000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:101516000-101546000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:101520400-101546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:101520800-101535800	Weak transcription	Aorta	Aorta
12	chr3:101520800-101535800	Weak transcription	Spleen	Spleen
13	chr3:101520800-101536200	Weak transcription	Right Ventricle	heart
14	chr3:101520800-101539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:101520800-101540200	Weak transcription	Lung	lung
16	chr3:101520800-101546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:101521000-101535800	Weak transcription	Thymus	Thymus
18	chr3:101521200-101535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:101521200-101546200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:101521400-101535800	Weak transcription	Brain Germinal Matrix	brain
21	chr3:101521400-101535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:101521400-101536000	Weak transcription	Fetal Brain Female	brain
23	chr3:101522000-101535800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:101522200-101535400	Weak transcription	HSMMtube	muscle
25	chr3:101522200-101540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:101522800-101535800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:101522800-101535800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:101522800-101535800	Weak transcription	Ovary	ovary
29	chr3:101522800-101536200	Weak transcription	Fetal Stomach	stomach
30	chr3:101522800-101540200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:101523000-101535800	Weak transcription	Fetal Brain Male	brain
32	chr3:101523200-101536200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:101523400-101540400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:101523600-101535600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:101523800-101540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:101525800-101540200	Weak transcription	Osteobl	bone
37	chr3:101526400-101535800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:101526600-101535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:101526800-101535800	Weak transcription	Left Ventricle	heart
40	chr3:101527400-101535600	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:101528600-101535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:101528600-101540000	Weak transcription	Fetal Lung	lung
43	chr3:101528600-101546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:101528800-101535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:101528800-101535800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:101528800-101535800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:101529000-101535800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:101529000-101535800	Weak transcription	Adipose Nuclei	Adipose
49	chr3:101529000-101540200	Weak transcription	NH-A	brain
50	chr3:101529200-101535600	Weak transcription	Brain Angular Gyrus	brain

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