Variant report

Variant	rs1132030
Chromosome Location	chr3:142524858-142524859
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142524560..142526927-chr3:142527541..142530171,3	K562	blood:
2	chr3:142519586..142522583-chr3:142524020..142526626,3	K562	blood:
3	chr3:142517462..142521813-chr3:142523317..142528126,6	K562	blood:
4	chr3:142294703..142296575-chr3:142522509..142525334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251787	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11717993	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1382688	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033912	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2177398	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2354856	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28524951	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28658009	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28689551	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34445140	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3821647	0.99[EUR][1000 genomes]
rs4259003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45497994	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4643748	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55722370	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56666685	0.86[EUR][1000 genomes]
rs57026466	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59108985	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60294656	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60319320	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60752859	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6440108	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440110	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66897945	0.84[EUR][1000 genomes]
rs6772222	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6777466	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6798849	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6803681	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6807862	0.80[EUR][1000 genomes]
rs73232711	0.86[EUR][1000 genomes]
rs7621642	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7622662	0.97[EUR][1000 genomes]
rs7623977	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7637846	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7638459	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7639403	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7641514	0.86[EUR][1000 genomes]
rs7642332	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7646197	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7653309	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs936339	0.95[EUR][1000 genomes]
rs9758429	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9815607	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9824476	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9835135	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9836269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9849461	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9851381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9864230	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9868886	0.86[EUR][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	nsv1000631	chr3:142516367-142572058	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv820119	chr3:142523218-142525209	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
3	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
4	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
5	chr3:142468600-142525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:142475000-142527200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:142488800-142527000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:142495400-142527000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:142498600-142526800	Weak transcription	Osteobl	bone
11	chr3:142499000-142527000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:142499400-142547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:142501600-142525000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:142501600-142525600	Weak transcription	Fetal Stomach	stomach
15	chr3:142501800-142527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:142501800-142528000	Weak transcription	Left Ventricle	heart
17	chr3:142501800-142535600	Weak transcription	Aorta	Aorta
18	chr3:142502000-142529400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:142510400-142527200	Weak transcription	A549	lung
20	chr3:142513600-142527200	Weak transcription	Brain Substantia Nigra	brain
21	chr3:142514800-142572000	Weak transcription	Right Ventricle	heart
22	chr3:142515000-142530800	Weak transcription	HSMM	muscle
23	chr3:142515600-142527000	Weak transcription	K562	blood
24	chr3:142517600-142526800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:142518800-142527200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:142519000-142572000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:142519200-142526600	Weak transcription	NHLF	lung
28	chr3:142519800-142530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:142520800-142525000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:142521400-142525000	Strong transcription	Adipose Nuclei	Adipose
31	chr3:142521400-142525200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:142521400-142528800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:142521600-142526800	Weak transcription	NH-A	brain
34	chr3:142522200-142526600	Weak transcription	Fetal Lung	lung
35	chr3:142522200-142526800	Weak transcription	HMEC	breast
36	chr3:142522200-142551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:142522400-142530000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:142522800-142525000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:142522800-142528600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:142523000-142525200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:142523000-142528200	Weak transcription	Ovary	ovary
42	chr3:142523200-142525000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:142523200-142525200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:142523200-142525200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:142523600-142526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:142523600-142526800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:142523800-142527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:142523800-142539400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:142524000-142525000	Enhancers	Fetal Heart	heart
50	chr3:142524000-142526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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