Variant report

Variant	rs62482788
Chromosome Location	chr7:105493095-105493096
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105480095..105482542-chr7:105492125..105494142,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10258171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487836	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11979996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730108	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62482787	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6965296	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs740308	0.91[AMR][1000 genomes];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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
2	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
3	chr7:105479400-105494400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:105479600-105494400	Weak transcription	Fetal Kidney	kidney
5	chr7:105479600-105506200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:105480000-105494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:105480000-105494400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:105480000-105494400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:105480000-105494400	Weak transcription	Osteobl	bone
10	chr7:105480000-105494800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:105480000-105515600	Weak transcription	Ovary	ovary
12	chr7:105480600-105494200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:105481000-105494400	Weak transcription	Fetal Brain Female	brain
14	chr7:105482200-105506400	Weak transcription	Psoas Muscle	Psoas
15	chr7:105482400-105494200	Weak transcription	Placenta	Placenta
16	chr7:105483000-105494600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:105483000-105506400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:105485200-105502400	Weak transcription	Hela-S3	cervix
19	chr7:105488000-105493400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:105488000-105515600	Weak transcription	Aorta	Aorta
21	chr7:105488800-105493200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:105489000-105493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:105489200-105493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:105489200-105493200	Strong transcription	Fetal Intestine Small	intestine
25	chr7:105489600-105497600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:105489800-105493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:105489800-105506600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:105490000-105493600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:105490000-105493800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:105490000-105494400	Weak transcription	Right Atrium	heart
31	chr7:105490200-105493400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:105490200-105493600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:105490200-105494400	Weak transcription	HSMM	muscle
34	chr7:105490200-105495200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr7:105490200-105515600	Weak transcription	Gastric	stomach
36	chr7:105490200-105516200	Weak transcription	Thymus	Thymus
37	chr7:105490400-105493400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:105490400-105493400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:105490400-105493600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:105490400-105494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:105490600-105493200	Enhancers	Colon Smooth Muscle	Colon
42	chr7:105490600-105494800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:105490800-105493200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:105490800-105493400	Enhancers	Primary T cells from cord blood	blood
45	chr7:105490800-105493800	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:105490800-105494400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:105490800-105494600	Weak transcription	Fetal Heart	heart
48	chr7:105490800-105509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:105491000-105494200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:105491000-105494400	Weak transcription	Muscle Satellite Cultured Cells	--

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