Variant report

Variant	rs12706110
Chromosome Location	chr7:116533204-116533205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116522756..116525769-chr7:116533074..116536831,3	K562	blood:
2	7:115847372-115857098..7:116532782-116535085	GM12878	blood:
3	chr7:116520662..116522374-chr7:116531118..116533444,2	K562	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10487354	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487355	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487356	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953829	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953830	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533164	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533755	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12665952	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669383	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670264	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12671827	0.95[EUR][1000 genomes]
rs12671828	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672008	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673979	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674017	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706108	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706109	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706112	0.99[EUR][1000 genomes]
rs12706115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706120	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706121	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706122	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706123	0.84[EUR][1000 genomes]
rs13222845	0.95[EUR][1000 genomes]
rs13224082	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13228847	0.98[EUR][1000 genomes]
rs13239000	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237720	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299441	0.96[EUR][1000 genomes]
rs2301649	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3173936	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807999	0.97[EUR][1000 genomes]
rs4808	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808129	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791492	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791721	0.98[EUR][1000 genomes];0.97[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:120 , 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	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
3	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116512000-116545400	Weak transcription	NHLF	lung
8	chr7:116514600-116537800	Weak transcription	NHEK	skin
9	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:116517200-116538000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
13	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
14	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:116520200-116538000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:116520200-116541000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:116522800-116534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:116524600-116542200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:116524600-116543800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:116525200-116535000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr7:116525200-116540600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:116525400-116537000	Strong transcription	Fetal Thymus	thymus
23	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
24	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
25	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
27	chr7:116526000-116540600	Weak transcription	Fetal Brain Male	brain
28	chr7:116526000-116543800	Weak transcription	Lung	lung
29	chr7:116526200-116533600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:116526200-116550000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
32	chr7:116526400-116533400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:116526400-116533600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:116526400-116541600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:116526600-116533600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:116526600-116537800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:116526600-116540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:116526600-116545400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
40	chr7:116526800-116535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:116526800-116543200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:116526800-116546800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:116526800-116554600	Weak transcription	Gastric	stomach
44	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
45	chr7:116527000-116539400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:116527000-116543800	Weak transcription	Ovary	ovary
47	chr7:116527000-116546200	Weak transcription	Brain Anterior Caudate	brain
48	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:116527200-116549600	Weak transcription	Fetal Heart	heart
50	chr7:116528000-116535000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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