Variant report

Variant	rs12669383
Chromosome Location	chr7:116530863-116530864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116529645..116531247-chr7:116539498..116542186,2	K562	blood:
2	chr7:116529213..116531247-chr7:116538546..116542186,4	K562	blood:
3	chr7:116530845..116532533-chr7:116536404..116538120,2	K562	blood:
4	chr7:116523707..116525240-chr7:116528875..116531390,2	K562	blood:
5	chr7:116530663..116533165-chr7:116534144..116536463,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10487354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10487355	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10487356	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953829	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953830	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12533164	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533755	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665952	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12670056	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670264	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12671827	0.88[EUR][1000 genomes]
rs12671828	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672008	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12673979	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674017	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706108	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706109	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12706110	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706112	0.92[EUR][1000 genomes]
rs12706115	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706120	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706121	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706122	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13222845	0.88[EUR][1000 genomes]
rs13224082	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13228847	0.91[EUR][1000 genomes]
rs13239000	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237720	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299441	0.89[EUR][1000 genomes]
rs2301649	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3173936	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807999	0.90[EUR][1000 genomes]
rs4808	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808129	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9791492	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9791721	0.91[EUR][1000 genomes];0.96[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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
4	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
6	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:116512000-116545400	Weak transcription	NHLF	lung
9	chr7:116514400-116531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:116514600-116537800	Weak transcription	NHEK	skin
11	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:116517200-116531000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:116517200-116531000	Weak transcription	Hela-S3	cervix
15	chr7:116517200-116533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:116517200-116538000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
18	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
19	chr7:116517800-116532200	Weak transcription	Fetal Lung	lung
20	chr7:116520000-116532600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:116520200-116538000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:116520200-116541000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:116522800-116534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:116524600-116542200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:116524600-116543800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:116525000-116532400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:116525000-116532800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:116525200-116535000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:116525200-116540600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:116525400-116537000	Strong transcription	Fetal Thymus	thymus
32	chr7:116525800-116532600	Weak transcription	HSMMtube	muscle
33	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
34	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
35	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
37	chr7:116526000-116532600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:116526000-116540600	Weak transcription	Fetal Brain Male	brain
39	chr7:116526000-116543800	Weak transcription	Lung	lung
40	chr7:116526200-116531400	Weak transcription	Left Ventricle	heart
41	chr7:116526200-116533600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:116526200-116550000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
44	chr7:116526400-116533400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:116526400-116533600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:116526400-116541600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:116526600-116532600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:116526600-116533600	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:116526600-116537800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:116526600-116540600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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