Variant report

Variant	rs58906619
Chromosome Location	chr7:126999228-126999229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126989599..126991125-chr7:126999110..127001691,2	K562	blood:
2	chr7:126994441..126996750-chr7:126997785..127000283,3	K562	blood:
3	chr7:126992206..126994276-chr7:126998893..127000633,3	K562	blood:

Variant related genes	Relation type
ENSG00000224138	Chromatin interaction

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

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

rs_ID	r²[population]
rs58475352	1.00[AMR][1000 genomes]
rs73443735	1.00[AMR][1000 genomes]
rs73443751	1.00[AMR][1000 genomes]
rs73443757	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73445314	1.00[AMR][1000 genomes]
rs73445345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73455355	1.00[AMR][1000 genomes]
rs73457180	1.00[AMR][1000 genomes]
rs73457184	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73457186	1.00[AMR][1000 genomes]
rs73457202	1.00[AMR][1000 genomes]
rs73459009	1.00[AMR][1000 genomes]
rs73459014	1.00[AMR][1000 genomes]
rs73459017	1.00[AMR][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	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
3	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
10	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
24	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
26	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
28	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
29	chr7:126988400-127001000	Weak transcription	Lung	lung
30	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
31	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
32	chr7:126988400-127001000	Weak transcription	NH-A	brain
33	chr7:126988400-127001000	Weak transcription	NHLF	lung
34	chr7:126988400-127001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:126988400-127002200	Weak transcription	Fetal Heart	heart
36	chr7:126988400-127004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
38	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:126988400-127013200	Weak transcription	NHEK	skin
42	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
47	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
48	chr7:126988600-127000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:126988600-127000600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:126988600-127000800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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