Variant report

Variant	rs72951508
Chromosome Location	chr6:118013696-118013697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118006732..118010476-chr6:118011807..118015509,5	K562	blood:
2	chr6:118011572..118014169-chr6:118023692..118026342,2	K562	blood:
3	chr6:117995582..117999904-chr6:118013410..118017566,4	K562	blood:
4	chr6:118013522..118015229-chr6:118016651..118018749,2	K562	blood:

Variant related genes	Relation type
ENSG00000153989	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11751090	0.85[AFR][1000 genomes]
rs13202506	0.85[AFR][1000 genomes]
rs17079416	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45529441	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45554533	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55879925	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356719	1.00[ASN][1000 genomes]
rs72951503	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951504	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951509	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951512	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951515	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951518	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951525	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951537	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951553	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969286	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117997400-118016200	Weak transcription	Aorta	Aorta
2	chr6:117998000-118015200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:117998200-118016000	Weak transcription	Fetal Stomach	stomach
4	chr6:117998200-118025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:117998200-118026400	Weak transcription	Esophagus	oesophagus
6	chr6:117998400-118015800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:117998800-118015200	Weak transcription	Fetal Thymus	thymus
8	chr6:117998800-118015400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:117998800-118016000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:117998800-118023000	Weak transcription	HSMMtube	muscle
11	chr6:117999000-118015800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:117999000-118039800	Weak transcription	Gastric	stomach
13	chr6:117999000-118042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:117999200-118014000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:117999200-118014000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:117999200-118014600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:117999200-118014800	Weak transcription	NH-A	brain
18	chr6:117999200-118015400	Weak transcription	NHDF-Ad	bronchial
19	chr6:117999200-118015800	Weak transcription	Brain Germinal Matrix	brain
20	chr6:117999200-118016000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:117999200-118016400	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:117999200-118016400	Weak transcription	Brain Substantia Nigra	brain
23	chr6:117999200-118028200	Weak transcription	Hela-S3	cervix
24	chr6:117999200-118029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:117999400-118014400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:117999400-118014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:117999400-118015200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:117999400-118015800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:117999400-118015800	Weak transcription	Fetal Brain Female	brain
30	chr6:117999400-118018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:117999600-118015800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:117999600-118015800	Weak transcription	Fetal Lung	lung
33	chr6:117999800-118014600	Weak transcription	HMEC	breast
34	chr6:117999800-118014800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:117999800-118015400	Weak transcription	Fetal Kidney	kidney
36	chr6:117999800-118016400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:118000800-118029400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:118001000-118016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:118001200-118015800	Weak transcription	Ovary	ovary
40	chr6:118001200-118027400	Weak transcription	Thymus	Thymus
41	chr6:118001600-118014400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:118001600-118014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:118001600-118015200	Weak transcription	Osteobl	bone
44	chr6:118001800-118013800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:118001800-118015800	Weak transcription	NHEK	skin
46	chr6:118002000-118015600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:118002400-118015000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:118002600-118014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:118002600-118015200	Weak transcription	Brain Anterior Caudate	brain
50	chr6:118002600-118027600	Weak transcription	Brain Angular Gyrus	brain

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