Variant report

Variant	rs66816665
Chromosome Location	chr3:150129743-150129744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
3	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
4	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
5	chr3:150128973..150131899-chr3:150220806..150223436,2	K562	blood:
6	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120742	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513368	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513371	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513372	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513375	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714034	0.94[EUR][1000 genomes]
rs11714123	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11925759	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11928577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11928948	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13066114	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067910	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068946	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073230	0.96[ASN][1000 genomes]
rs13076419	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13089766	0.87[EUR][1000 genomes]
rs13317818	0.93[ASN][1000 genomes]
rs1376027	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28587291	0.93[ASN][1000 genomes]
rs2868430	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106738	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34503712	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34647320	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34983941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35019980	0.87[EUR][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs35598887	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3749400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811719	0.93[ASN][1000 genomes]
rs61734437	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67073112	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67100311	0.87[EUR][1000 genomes]
rs6791546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799106	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799981	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73167540	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614772	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618493	0.93[ASN][1000 genomes]
rs7620193	0.93[ASN][1000 genomes]
rs7621019	0.93[ASN][1000 genomes]
rs7623100	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827736	0.86[ASN][1000 genomes]
rs9844735	0.93[ASN][1000 genomes]
rs9875752	0.93[ASN][1000 genomes]
rs9879140	0.93[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150124600-150130600	Active TSS	Aorta	Aorta
2	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
4	chr3:150124600-150133000	Active TSS	Right Atrium	heart
5	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
6	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
7	chr3:150125000-150130400	Active TSS	Liver	Liver
8	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
11	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
12	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr3:150125000-150131200	Active TSS	Placenta	Placenta
14	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
16	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
17	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
18	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
20	chr3:150125200-150130600	Active TSS	Colon Smooth Muscle	Colon
21	chr3:150125200-150130600	Active TSS	Left Ventricle	heart
22	chr3:150125200-150130600	Active TSS	Ovary	ovary
23	chr3:150125200-150131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:150125200-150131200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr3:150125200-150131200	Active TSS	Stomach Mucosa	stomach
26	chr3:150125200-150132400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:150125200-150132400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:150125400-150130600	Active TSS	Brain Hippocampus Middle	brain
29	chr3:150125400-150131800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:150125400-150132000	Active TSS	Brain Angular Gyrus	brain
31	chr3:150125400-150132400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:150125600-150130200	Active TSS	NH-A	brain
33	chr3:150125600-150130600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:150125600-150130600	Active TSS	HUVEC	blood vessel
35	chr3:150125600-150130800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr3:150125600-150131000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr3:150125600-150131200	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr3:150125600-150131400	Active TSS	Hela-S3	cervix
39	chr3:150125600-150132200	Active TSS	Fetal Thymus	thymus
40	chr3:150125800-150130600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:150126200-150129800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:150127200-150130600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:150127200-150132400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:150127400-150130600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr3:150127800-150130600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:150128000-150131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:150128200-150129800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:150128200-150130600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr3:150128200-150131400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr3:150128400-150129800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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