Variant report

Variant	rs72951512
Chromosome Location	chr6:118017904-118017905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118015413..118018285-chr6:118023217..118025621,2	K562	blood:
2	chr6:118009698..118012288-chr6:118017550..118019835,2	K562	blood:
3	chr6:118013522..118015229-chr6:118016651..118018749,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17079416	0.94[AFR][1000 genomes];1.00[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	0.87[AFR][1000 genomes];1.00[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	0.81[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]
rs72951508	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951509	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951515	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951518	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951525	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969285	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969286	0.81[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117998200-118025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:117998200-118026400	Weak transcription	Esophagus	oesophagus
3	chr6:117998800-118023000	Weak transcription	HSMMtube	muscle
4	chr6:117999000-118039800	Weak transcription	Gastric	stomach
5	chr6:117999000-118042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:117999200-118028200	Weak transcription	Hela-S3	cervix
7	chr6:117999200-118029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:117999400-118018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:118000800-118029400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:118001200-118027400	Weak transcription	Thymus	Thymus
11	chr6:118002600-118027600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:118003000-118026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:118003800-118026600	Weak transcription	Lung	lung
14	chr6:118006000-118026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:118008800-118029600	Weak transcription	Colonic Mucosa	Colon
16	chr6:118009400-118039800	Weak transcription	Small Intestine	intestine
17	chr6:118010800-118019400	Strong transcription	HepG2	liver
18	chr6:118012600-118024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:118012600-118039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:118013400-118018400	Strong transcription	Dnd41	blood
21	chr6:118013400-118018800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:118013600-118019000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:118013600-118019000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:118013800-118018800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:118013800-118019800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:118013800-118024800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:118014000-118019200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:118014000-118019200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:118014000-118019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:118014200-118018600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:118014200-118018800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:118014200-118018800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:118014200-118019000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:118014200-118019000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:118014400-118018600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr6:118014400-118018800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:118014400-118019000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:118014400-118019000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:118014400-118019000	Strong transcription	Primary B cells from cord blood	blood
40	chr6:118014400-118019000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:118014400-118019000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:118014400-118019000	Strong transcription	Liver	Liver
43	chr6:118014400-118019400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:118014400-118029000	Weak transcription	A549	lung
45	chr6:118014600-118018000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:118014600-118018400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr6:118014600-118018600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:118014600-118018600	Strong transcription	HMEC	breast
49	chr6:118014600-118018800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:118014600-118018800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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