Variant report

Variant	rs1733301
Chromosome Location	chr3:120153979-120153980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120145331..120148802-chr3:120153199..120156349,3	K562	blood:
2	chr3:120153559..120155176-chr3:120167245..120169976,2	MCF-7	breast:
3	chr3:120145338..120147579-chr3:120153518..120155283,2	K562	blood:

Variant related genes	Relation type
ENSG00000163430	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1147706	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147709	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147710	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147712	0.81[ASN][1000 genomes]
rs1147714	0.81[ASN][1000 genomes]
rs1147715	0.81[ASN][1000 genomes]
rs1147716	0.81[ASN][1000 genomes]
rs1259309	0.81[ASN][1000 genomes]
rs1259311	0.93[EUR][1000 genomes]
rs1259312	0.81[ASN][1000 genomes]
rs1259329	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1259331	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1259332	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1259334	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1259336	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1259337	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1259338	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1259456	0.81[ASN][1000 genomes]
rs1259471	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259472	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259473	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1262395	0.81[ASN][1000 genomes]
rs1267675	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1270209	0.85[EUR][1000 genomes]
rs1520881	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716835	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1716837	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1733296	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1733298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1733299	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1733303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733304	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733306	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733307	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733319	0.93[EUR][1000 genomes]
rs2700262	0.81[ASN][1000 genomes]
rs2702155	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5000757	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6768839	0.84[EUR][1000 genomes]
rs735138	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs874477	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs874478	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874479	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874480	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9631455	0.93[EUR][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120137400-120162200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:120137800-120161600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:120138200-120154200	Weak transcription	HMEC	breast
4	chr3:120138200-120157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:120138200-120162000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:120138200-120167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:120138200-120169200	Weak transcription	Gastric	stomach
8	chr3:120138400-120155600	Weak transcription	Esophagus	oesophagus
9	chr3:120140800-120154200	Weak transcription	Psoas Muscle	Psoas
10	chr3:120143600-120154200	Genic enhancers	NH-A	brain
11	chr3:120144400-120165800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:120145400-120157600	Weak transcription	Fetal Brain Female	brain
13	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
14	chr3:120146800-120157800	Weak transcription	Fetal Brain Male	brain
15	chr3:120147000-120154400	Genic enhancers	HSMMtube	muscle
16	chr3:120147200-120154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:120147600-120154000	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr3:120147600-120154200	Weak transcription	Fetal Intestine Small	intestine
19	chr3:120148000-120161000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:120149000-120161200	Genic enhancers	NHDF-Ad	bronchial
21	chr3:120149200-120154200	Weak transcription	Small Intestine	intestine
22	chr3:120149200-120155400	Weak transcription	Brain Anterior Caudate	brain
23	chr3:120149200-120156600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:120149400-120155600	Enhancers	Colon Smooth Muscle	Colon
25	chr3:120149400-120157200	Weak transcription	Colonic Mucosa	Colon
26	chr3:120149800-120154000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:120150400-120154200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:120150400-120157400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:120151200-120155400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:120151400-120154200	Weak transcription	Brain Angular Gyrus	brain
31	chr3:120151400-120154200	Weak transcription	Stomach Mucosa	stomach
32	chr3:120151800-120154000	Weak transcription	A549	lung
33	chr3:120151800-120166200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:120152000-120154200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:120152000-120154200	Genic enhancers	Osteobl	bone
36	chr3:120152000-120155200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:120152000-120158400	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:120152200-120154200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:120152200-120154600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:120152200-120154600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:120152200-120156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:120152200-120157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:120152400-120154400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:120152400-120154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:120152400-120154600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:120152400-120157000	Enhancers	Ovary	ovary
47	chr3:120152600-120154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:120152600-120154200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:120152600-120154400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:120152600-120154600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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