Variant report

Variant	rs13375753
Chromosome Location	chr1:150038352-150038353
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
2	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
3	chr1:149897261..149900212-chr1:150037388..150039333,2	MCF-7	breast:
4	chr1:150029169..150032073-chr1:150037083..150039053,2	K562	blood:
5	chr1:149898324..149902062-chr1:150037827..150040253,4	MCF-7	breast:
6	chr1:149900572..149902334-chr1:150036988..150039201,2	K562	blood:
7	chr1:149980215..149982750-chr1:150036474..150039068,2	K562	blood:
8	chr1:149870325..149872593-chr1:150038343..150041327,5	MCF-7	breast:
9	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
10	chr1:149906318..149907999-chr1:150037481..150039064,2	MCF-7	breast:
11	chr1:149887372..149890270-chr1:150038277..150040305,2	K562	blood:
12	chr1:149900549..149903702-chr1:150037332..150040713,4	MCF-7	breast:
13	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
14	chr1:149817827..149821431-chr1:150036446..150041414,4	K562	blood:
15	chr1:150036699..150038403-chr1:150126898..150129215,2	MCF-7	breast:
16	chr1:150037572..150039260-chr1:150137340..150140084,3	K562	blood:
17	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
18	chr1:149855739..149860992-chr1:150036779..150042618,12	K562	blood:
19	chr1:149897900..149900101-chr1:150038034..150041085,3	K562	blood:
20	chr1:150038076..150040720-chr1:150121290..150124944,3	K562	blood:
21	chr1:150037974..150040351-chr1:151020175..151022098,2	MCF-7	breast:
22	chr1:150036033..150038472-chr1:150149719..150151495,2	K562	blood:
23	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:
24	chr1:150036735..150038527-chr1:150146288..150147861,2	K562	blood:
25	chr1:149814583..149816442-chr1:150038342..150040815,2	MCF-7	breast:
26	chr1:150036486..150039055-chr1:150205387..150207160,2	K562	blood:
27	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:
28	chr1:149818728..149822581-chr1:150037464..150041088,4	MCF-7	breast:
29	chr1:149855739..149863622-chr1:150034266..150042059,13	K562	blood:
30	chr1:149980215..149984264-chr1:150036474..150041542,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD7B-2	chr1:150035352-150039341	NONHSAT006267

No data

Variant related genes	Relation type
ENSG00000203819	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000159164	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10157931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16833279	1.00[EUR][1000 genomes]
rs16833591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs57788184	1.00[EUR][1000 genomes]
rs57819791	1.00[EUR][1000 genomes]
rs59821426	1.00[EUR][1000 genomes]
rs60109648	1.00[EUR][1000 genomes]
rs60307722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60616215	1.00[EUR][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6671747	1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011248	1.00[EUR][1000 genomes]
rs73011264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011271	1.00[EUR][1000 genomes]
rs73011273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011380	1.00[EUR][1000 genomes]
rs73016142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73016148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7520088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527755	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs946521	1.00[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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:150032800-150038600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:150033800-150038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:150034000-150038600	Weak transcription	Right Atrium	heart
6	chr1:150034200-150038600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:150034200-150038600	Weak transcription	Fetal Stomach	stomach
8	chr1:150034400-150038600	Weak transcription	Fetal Thymus	thymus
9	chr1:150035600-150039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:150036600-150038600	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:150036600-150038800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:150037000-150038400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:150037000-150038600	Enhancers	HSMM	muscle
14	chr1:150037000-150038600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:150037200-150038400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:150037200-150038400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:150037200-150038400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:150037200-150038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:150037200-150038600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:150037200-150038600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:150037200-150038600	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:150037200-150038600	Enhancers	Hela-S3	cervix
23	chr1:150037200-150038600	Enhancers	NHDF-Ad	bronchial
24	chr1:150037200-150038800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:150037400-150038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:150037400-150038600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:150037400-150038600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:150037400-150038800	Weak transcription	Left Ventricle	heart
29	chr1:150037400-150038800	Weak transcription	Ovary	ovary
30	chr1:150037400-150038800	Weak transcription	Psoas Muscle	Psoas
31	chr1:150037400-150038800	Weak transcription	Small Intestine	intestine
32	chr1:150037600-150038400	Enhancers	Primary T cells from cord blood	blood
33	chr1:150037600-150038400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:150037600-150038400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:150037600-150038600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:150037600-150038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:150037600-150038800	Flanking Active TSS	HUVEC	blood vessel
38	chr1:150037600-150039000	Flanking Active TSS	Dnd41	blood
39	chr1:150037600-150040400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:150037800-150038400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:150037800-150038400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:150037800-150038400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr1:150037800-150038600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:150037800-150038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:150037800-150038600	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:150037800-150038800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:150037800-150038800	Active TSS	Fetal Brain Male	brain
48	chr1:150037800-150039000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:150037800-150040800	Active TSS	K562	blood
50	chr1:150038000-150038400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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