Variant report

Variant	rs35142265
Chromosome Location	chr17:38269759-38269760
allele	A/G
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38268210..38269905-chr17:38473049..38475917,3	MCF-7	breast:
2	chr17:38214362..38216887-chr17:38268670..38271173,2	K562	blood:
3	chr17:38267755..38271453-chr17:38442988..38446987,5	K562	blood:
4	chr17:38268196..38271117-chr17:38323045..38325430,4	MCF-7	breast:
5	chr17:38268213..38270113-chr17:38284781..38287108,2	MCF-7	breast:
6	chr17:38269583..38271786-chr17:38337084..38338600,2	MCF-7	breast:
7	chr17:38269014..38270098-chr17:38324705..38325344,4	MCF-7	breast:
8	chr17:38220464..38222269-chr17:38268473..38270990,2	MCF-7	breast:
9	chr17:38269477..38271026-chr17:38303126..38305486,2	MCF-7	breast:
10	chr17:38267480..38272193-chr17:38332816..38336625,5	MCF-7	breast:
11	chr17:38268818..38270189-chr17:38347742..38348733,4	K562	blood:
12	chr17:38267146..38270025-chr17:38323862..38326208,3	MCF-7	breast:
13	chr17:38267838..38274115-chr17:38331817..38337587,12	MCF-7	breast:
14	chr17:38269526..38271162-chr17:38374700..38377094,2	MCF-7	breast:
15	chr17:38269557..38271189-chr17:38326632..38328200,2	MCF-7	breast:
16	chr17:38248607..38250140-chr17:38268958..38271761,2	K562	blood:
17	chr17:7386961..7387663-chr17:38269432..38270188,2	Hela-S3	cervix:
18	chr17:38268792..38270376-chr17:80055353..80057881,2	MCF-7	breast:
19	chr17:38247453..38250107-chr17:38269665..38271761,2	K562	blood:
20	chr17:38269551..38272040-chr17:38476568..38478805,2	MCF-7	breast:
21	chr17:38269490..38271710-chr17:38295731..38297283,2	K562	blood:
22	chr17:38180489..38185018-chr17:38268156..38272012,4	MCF-7	breast:
23	chr17:38267549..38271045-chr17:38302108..38305053,4	MCF-7	breast:
24	chr17:38168576..38170277-chr17:38268230..38270228,2	K562	blood:
25	chr17:38269604..38271663-chr17:38319802..38322582,2	MCF-7	breast:
26	chr17:38268889..38271750-chr17:38296269..38298064,2	MCF-7	breast:
27	chr17:38269331..38269965-chr17:38446655..38447580,2	K562	blood:
28	chr17:38269060..38270014-chr17:38324386..38325269,5	K562	blood:
29	chr17:38224965..38226879-chr17:38268479..38270883,2	MCF-7	breast:
30	chr17:38269045..38271015-chr17:38309924..38312531,2	MCF-7	breast:
31	chr17:38136359..38138448-chr17:38268198..38270997,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108352	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000169710	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57234044	0.91[ASN][1000 genomes]
rs7211770	0.83[ASN][1000 genomes]
rs9911690	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35142265	MSL1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38256800-38269800	Weak transcription	Aorta	Aorta
2	chr17:38262200-38270400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr17:38263400-38272400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:38264000-38270400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:38266200-38269800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:38266200-38269800	Enhancers	Stomach Mucosa	stomach
7	chr17:38266200-38270400	Enhancers	Spleen	Spleen
8	chr17:38266400-38270400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr17:38266400-38270600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:38266400-38270600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:38266600-38270400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr17:38266800-38271200	Flanking Active TSS	HepG2	liver
13	chr17:38267200-38269800	Enhancers	Fetal Brain Male	brain
14	chr17:38267200-38271000	Flanking Active TSS	Osteobl	bone
15	chr17:38267800-38271000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:38268200-38270400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr17:38268200-38271000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:38268400-38269800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:38268400-38269800	Weak transcription	Esophagus	oesophagus
20	chr17:38268400-38270400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr17:38269000-38270400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:38269000-38270400	Flanking Active TSS	Dnd41	blood
23	chr17:38269000-38270600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:38269200-38270000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:38269200-38270200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr17:38269200-38270200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr17:38269200-38270400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:38269200-38271400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:38269400-38269800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr17:38269400-38269800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:38269400-38269800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr17:38269400-38269800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr17:38269400-38269800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr17:38269400-38269800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr17:38269400-38269800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:38269400-38269800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:38269400-38269800	Active TSS	Brain Angular Gyrus	brain
38	chr17:38269400-38269800	Active TSS	Brain Anterior Caudate	brain
39	chr17:38269400-38269800	Active TSS	Brain Germinal Matrix	brain
40	chr17:38269400-38269800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:38269400-38269800	Active TSS	Colon Smooth Muscle	Colon
42	chr17:38269400-38269800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr17:38269400-38269800	Active TSS	Fetal Brain Female	brain
44	chr17:38269400-38269800	Active TSS	Fetal Lung	lung
45	chr17:38269400-38269800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr17:38269400-38269800	Active TSS	Thymus	Thymus
47	chr17:38269400-38269800	Active TSS	A549	lung
48	chr17:38269400-38269800	Active TSS	Hela-S3	cervix
49	chr17:38269400-38269800	Active TSS	NHDF-Ad	bronchial
50	chr17:38269400-38270000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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