Variant report

Variant	rs62374136
Chromosome Location	chr5:118435648-118435649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:118435609-118435678	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
DMXL1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10900727	0.82[ASN][1000 genomes]
rs11241490	0.83[EUR][1000 genomes]
rs11738702	0.82[EUR][1000 genomes]
rs12658987	0.84[EUR][1000 genomes]
rs4512152	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61279074	0.90[EUR][1000 genomes]
rs6595174	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6880622	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7734532	0.80[EUR][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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:118409000-118471200	Weak transcription	Gastric	stomach
4	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
6	chr5:118415200-118443800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:118415200-118447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
9	chr5:118416000-118439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:118416000-118452600	Weak transcription	Psoas Muscle	Psoas
11	chr5:118416800-118441800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:118417000-118446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:118417200-118451200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:118417200-118453800	Weak transcription	K562	blood
16	chr5:118418800-118441200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:118419000-118451800	Weak transcription	HUVEC	blood vessel
18	chr5:118422200-118444800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:118424400-118452000	Weak transcription	Hela-S3	cervix
20	chr5:118424400-118452000	Weak transcription	Osteobl	bone
21	chr5:118424400-118454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:118424600-118451800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:118424800-118451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:118427000-118458200	Weak transcription	Spleen	Spleen
25	chr5:118427200-118441600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:118427600-118439800	Weak transcription	Ovary	ovary
27	chr5:118427600-118450200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:118427800-118455800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:118430200-118439000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:118430200-118471400	Weak transcription	Colonic Mucosa	Colon
31	chr5:118430600-118445200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
33	chr5:118431000-118445000	Weak transcription	Left Ventricle	heart
34	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
35	chr5:118431400-118445200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:118431400-118453000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:118432000-118441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:118432200-118448200	Weak transcription	Placenta	Placenta
39	chr5:118432200-118451600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:118432200-118451600	Weak transcription	HSMM	muscle
41	chr5:118432400-118442000	Weak transcription	Brain Angular Gyrus	brain
42	chr5:118432600-118448800	Strong transcription	Primary B cells from cord blood	blood
43	chr5:118432800-118451600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:118432800-118459200	Weak transcription	Fetal Brain Female	brain
45	chr5:118433000-118441600	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:118433000-118466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:118433000-118468600	Weak transcription	Fetal Heart	heart
48	chr5:118433400-118452200	Weak transcription	Fetal Kidney	kidney
49	chr5:118433600-118436400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:118433600-118438400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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