Variant report

Variant	rs4272311
Chromosome Location	chr7:129303725-129303726
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
2	chr7:129303280..129305949-chr7:129417875..129421577,3	K562	blood:
3	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
4	chr7:129303349..129305568-chr7:129461167..129463400,2	K562	blood:
5	chr7:129300901..129303855-chr7:129648023..129650206,2	K562	blood:
6	chr7:129302797..129305366-chr7:129652511..129655155,2	MCF-7	breast:
7	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
8	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10236959	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10270813	0.86[ASN][1000 genomes]
rs12666331	0.82[AMR][1000 genomes]
rs1882094	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1962039	0.86[ASN][1000 genomes]
rs3778775	0.85[ASN][1000 genomes]
rs4728174	0.80[AMR][1000 genomes]
rs62489295	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6946418	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957596	0.83[AMR][1000 genomes]
rs7778681	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782520	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9641854	0.83[ASN][1000 genomes]
rs9656383	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[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	esv3477492	chr7:129298416-129304014	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129286800-129304400	Weak transcription	NHLF	lung
3	chr7:129289200-129314000	Weak transcription	Fetal Brain Male	brain
4	chr7:129290000-129325800	Weak transcription	Stomach Mucosa	stomach
5	chr7:129290400-129304600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:129293800-129311200	Weak transcription	Brain Anterior Caudate	brain
7	chr7:129293800-129311400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:129297800-129349800	Weak transcription	Small Intestine	intestine
9	chr7:129298000-129304400	Weak transcription	NHDF-Ad	bronchial
10	chr7:129298600-129309800	Weak transcription	Fetal Heart	heart
11	chr7:129299800-129304400	Weak transcription	NH-A	brain
12	chr7:129299800-129304400	Weak transcription	NHEK	skin
13	chr7:129299800-129311400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:129300000-129304600	Weak transcription	Hela-S3	cervix
15	chr7:129300000-129314000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:129300600-129311800	Weak transcription	Pancreas	Pancrea
17	chr7:129301000-129304400	Weak transcription	Osteobl	bone
18	chr7:129301000-129330200	Weak transcription	Gastric	stomach
19	chr7:129301200-129311200	Weak transcription	Right Ventricle	heart
20	chr7:129301200-129312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:129301800-129311800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:129302000-129304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:129302000-129304000	Weak transcription	Fetal Brain Female	brain
24	chr7:129302000-129304200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:129302000-129304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:129302000-129304200	Weak transcription	HSMM	muscle
27	chr7:129302000-129304200	Weak transcription	HUVEC	blood vessel
28	chr7:129302000-129304400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:129302000-129304400	Weak transcription	HSMMtube	muscle
30	chr7:129302000-129304600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:129302000-129304800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:129302000-129304800	Weak transcription	Ovary	ovary
33	chr7:129302000-129304800	Weak transcription	K562	blood
34	chr7:129302000-129305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:129302000-129309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:129302000-129310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:129302000-129310600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:129302000-129311200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:129302000-129311200	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:129302000-129311200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:129302000-129311200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:129302000-129311200	Weak transcription	Fetal Stomach	stomach
43	chr7:129302000-129311200	Weak transcription	Left Ventricle	heart
44	chr7:129302000-129311200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:129302000-129311200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:129302000-129311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:129302000-129311400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:129302000-129311400	Weak transcription	Brain Substantia Nigra	brain
49	chr7:129302000-129311600	Weak transcription	Brain Germinal Matrix	brain
50	chr7:129302000-129311800	Weak transcription	Spleen	Spleen

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