Variant report

Variant	rs12706109
Chromosome Location	chr7:116514940-116514941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116510648..116515010-chr7:116515290..116517659,4	K562	blood:
2	chr7:116513576..116515376-chr7:116594668..116596519,2	K562	blood:
3	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
4	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
5	chr7:116512190..116515433-chr7:116515804..116519859,4	MCF-7	breast:
6	chr7:116501434..116502951-chr7:116512969..116515180,2	K562	blood:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000235945	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	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10487355	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10487356	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953829	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953830	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533164	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533755	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12665952	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12669383	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670056	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12670264	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12671827	0.94[EUR][1000 genomes]
rs12671828	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672008	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673979	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674017	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706108	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706110	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706112	0.98[EUR][1000 genomes]
rs12706115	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706120	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706121	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706122	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706123	0.83[EUR][1000 genomes]
rs13222845	0.94[EUR][1000 genomes]
rs13224082	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13228847	0.96[EUR][1000 genomes]
rs13239000	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237720	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299441	0.97[EUR][1000 genomes]
rs2301649	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3173936	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3807999	0.99[EUR][1000 genomes]
rs4808	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808129	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9791492	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791721	0.82[AMR][1000 genomes];0.99[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: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	chr7:116504000-116515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
6	chr7:116504400-116515200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
10	chr7:116505000-116516400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:116505000-116517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
13	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
15	chr7:116505200-116516400	Weak transcription	Fetal Lung	lung
16	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:116507000-116516800	Weak transcription	Hela-S3	cervix
19	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:116509200-116515200	Enhancers	Primary T cells from cord blood	blood
21	chr7:116509600-116515200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:116509600-116516600	Weak transcription	Fetal Brain Female	brain
23	chr7:116509800-116515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:116510000-116516400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:116510400-116516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:116510600-116516200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:116510800-116515000	Weak transcription	Lung	lung
28	chr7:116511000-116516800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:116511200-116516400	Weak transcription	Brain Angular Gyrus	brain
30	chr7:116511200-116516600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:116511200-116528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:116511400-116525400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:116511400-116528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:116512000-116516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:116512000-116516600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:116512000-116516800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:116512000-116545400	Weak transcription	NHLF	lung
39	chr7:116512200-116515600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:116512200-116516400	Weak transcription	Stomach Mucosa	stomach
41	chr7:116512200-116516600	Weak transcription	Liver	Liver
42	chr7:116512200-116516600	Weak transcription	NH-A	brain
43	chr7:116512200-116519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:116512200-116529400	Weak transcription	Osteobl	bone
45	chr7:116512800-116519000	Strong transcription	Primary B cells from cord blood	blood
46	chr7:116513000-116515200	Enhancers	Spleen	Spleen
47	chr7:116513200-116528400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:116513400-116515800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:116513400-116516600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:116513400-116518000	Strong transcription	Monocytes-CD14+_RO01746	blood

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