Variant report

Variant	rs73471109
Chromosome Location	chr7:116392189-116392190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116391329..116393101-chr7:116400609..116402352,2	K562	blood:
2	7:115890993-115892266..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
3	7:115847372-115857098..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17138980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139140	1.00[EUR][1000 genomes]
rs6969068	1.00[EUR][1000 genomes]
rs6978257	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73469197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73471113	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73471168	1.00[EUR][1000 genomes]
rs73471192	1.00[EUR][1000 genomes]
rs73471198	1.00[EUR][1000 genomes]
rs73473203	1.00[EUR][1000 genomes]
rs73473209	1.00[EUR][1000 genomes]
rs73473215	1.00[EUR][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	esv274927	chr7:116382918-116395518	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116351800-116407000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:116357400-116409800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116375000-116418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:116375800-116411200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:116377800-116395600	Weak transcription	NH-A	brain
6	chr7:116378800-116422200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:116381200-116392200	Weak transcription	HUVEC	blood vessel
8	chr7:116381400-116413400	Weak transcription	NHLF	lung
9	chr7:116381600-116398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:116381600-116418600	Weak transcription	Aorta	Aorta
11	chr7:116381800-116407000	Weak transcription	Pancreas	Pancrea
12	chr7:116382000-116398000	Weak transcription	Hela-S3	cervix
13	chr7:116382000-116413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:116382200-116409800	Weak transcription	Placenta	Placenta
15	chr7:116382400-116396400	Weak transcription	HMEC	breast
16	chr7:116383000-116392400	Weak transcription	Left Ventricle	heart
17	chr7:116383000-116396800	Weak transcription	Psoas Muscle	Psoas
18	chr7:116383600-116397400	Weak transcription	HSMM	muscle
19	chr7:116383800-116399400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:116383800-116409400	Weak transcription	Fetal Kidney	kidney
21	chr7:116384000-116397400	Weak transcription	NHEK	skin
22	chr7:116384000-116405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:116384000-116406200	Weak transcription	HepG2	liver
24	chr7:116384200-116395400	Weak transcription	Osteobl	bone
25	chr7:116384200-116395800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:116384200-116411200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:116384600-116394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:116384800-116392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:116385000-116394200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:116388000-116394000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:116388400-116416200	Weak transcription	Fetal Stomach	stomach
32	chr7:116391600-116405400	Strong transcription	A549	lung
33	chr7:116391600-116410600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:116391800-116392800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:116392000-116392400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:116392000-116394800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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