Variant report

Variant	rs1965473
Chromosome Location	chr3:150258711-150258712
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150258291..150260561-chr3:150340195..150342969,2	K562	blood:
2	chr3:150257542..150259697-chr3:150290754..150292277,2	K562	blood:
3	chr3:149957085..149958693-chr3:150257954..150260246,2	K562	blood:
4	chr3:150086378..150089997-chr3:150256465..150259602,3	MCF-7	breast:
5	chr3:150257534..150260466-chr3:150320430..150322840,2	MCF-7	breast:
6	chr3:150245282..150248220-chr3:150257440..150261606,3	K562	blood:
7	chr3:150123749..150128774-chr3:150257653..150260778,4	K562	blood:
8	chr3:150245433..150248557-chr3:150256518..150259293,3	MCF-7	breast:
9	chr3:150255990..150258975-chr3:150479448..150481301,3	MCF-7	breast:
10	chr3:150124970..150128067-chr3:150255521..150260778,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11548666	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922033	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927175	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927998	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107730	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214539	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440940	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1915945	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030530	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293150	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293151	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707430	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723846	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208302	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217437	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885545	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60142519	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61667461	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001317	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001332	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001341	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001347	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001362	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001363	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001365	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003042	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7430992	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650013	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150246200-150260600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:150246400-150259000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:150246400-150259200	Weak transcription	Fetal Lung	lung
4	chr3:150246400-150261800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:150246400-150262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:150247000-150259400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:150248400-150263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:150248800-150262000	Weak transcription	Thymus	Thymus
9	chr3:150249600-150260400	Weak transcription	GM12878-XiMat	blood
10	chr3:150251200-150259400	Weak transcription	Fetal Brain Female	brain
11	chr3:150252600-150259000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:150252600-150259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:150253200-150259000	Weak transcription	HSMMtube	muscle
14	chr3:150253400-150258800	Weak transcription	A549	lung
15	chr3:150253400-150259200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:150253400-150259600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:150254000-150259200	Weak transcription	HSMM	muscle
18	chr3:150254400-150259200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:150254400-150262000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:150254400-150262600	Weak transcription	Fetal Stomach	stomach
21	chr3:150254800-150259200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:150254800-150259400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:150254800-150259400	Weak transcription	Hela-S3	cervix
24	chr3:150254800-150261400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:150255000-150259200	Weak transcription	Primary B cells from cord blood	blood
26	chr3:150255000-150261000	Weak transcription	Fetal Brain Male	brain
27	chr3:150255200-150259800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:150255200-150260600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:150255200-150262600	Weak transcription	Right Ventricle	heart
30	chr3:150255400-150261800	Weak transcription	Brain Substantia Nigra	brain
31	chr3:150255600-150259200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:150255600-150259400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:150255600-150259600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:150255800-150259000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:150256000-150259400	Weak transcription	Placenta	Placenta
36	chr3:150256000-150263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:150256000-150263200	Weak transcription	Lung	lung
38	chr3:150256200-150260800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:150256400-150259200	Weak transcription	NHDF-Ad	bronchial
40	chr3:150256400-150260600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:150256600-150259200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:150256600-150259400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:150256600-150260200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:150256600-150260600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:150256600-150260600	Weak transcription	Brain Anterior Caudate	brain
46	chr3:150256600-150262800	Weak transcription	Aorta	Aorta
47	chr3:150256800-150259600	Weak transcription	Left Ventricle	heart
48	chr3:150256800-150260200	Weak transcription	Osteobl	bone
49	chr3:150256800-150260600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:150256800-150260600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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