Variant report

Variant	rs7313412
Chromosome Location	chr12:106904596-106904597
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1004601	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778482	0.84[ASN][1000 genomes]
rs11113027	0.81[AMR][1000 genomes]
rs12424092	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2244958	0.83[ASN][1000 genomes]
rs2254755	0.82[ASN][1000 genomes]
rs2264759	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2288270	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137444	0.97[ASN][1000 genomes]
rs7137638	0.97[ASN][1000 genomes]
rs721438	0.92[ASN][1000 genomes]
rs7315611	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106854400-106904800	Weak transcription	HSMM	muscle
3	chr12:106886200-106916400	Weak transcription	A549	lung
4	chr12:106887600-106907800	Weak transcription	Small Intestine	intestine
5	chr12:106888200-106906800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:106889200-106904600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:106889200-106905400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:106889400-106904600	Strong transcription	Liver	Liver
9	chr12:106890800-106905200	Weak transcription	Colonic Mucosa	Colon
10	chr12:106892000-106905200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:106892000-106906400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:106892000-106907800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:106892400-106905200	Weak transcription	NHEK	skin
14	chr12:106892800-106905600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:106894400-106916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:106894600-106905200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:106894600-106913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:106896400-106906600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:106896400-106906800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:106896400-106907200	Weak transcription	Esophagus	oesophagus
21	chr12:106896400-106908400	Weak transcription	NHLF	lung
22	chr12:106896400-106916800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:106896600-106905200	Weak transcription	Fetal Heart	heart
24	chr12:106896600-106906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:106897000-106905000	Weak transcription	Right Atrium	heart
26	chr12:106897400-106905600	Strong transcription	Placenta	Placenta
27	chr12:106898200-106905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:106898200-106907600	Weak transcription	K562	blood
29	chr12:106898600-106904600	Weak transcription	Pancreas	Pancrea
30	chr12:106898600-106905400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:106898600-106906600	Weak transcription	Fetal Brain Female	brain
32	chr12:106898600-106906800	Weak transcription	Osteobl	bone
33	chr12:106898600-106916000	Weak transcription	HepG2	liver
34	chr12:106898800-106904800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:106898800-106905600	Weak transcription	Fetal Intestine Large	intestine
36	chr12:106898800-106905600	Weak transcription	HSMMtube	muscle
37	chr12:106898800-106913200	Weak transcription	Fetal Lung	lung
38	chr12:106899000-106905400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:106899000-106906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:106899000-106907000	Weak transcription	Gastric	stomach
41	chr12:106899200-106905400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:106899200-106907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:106899600-106905200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:106899600-106905600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:106899600-106906400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:106899600-106911000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:106900000-106904600	Strong transcription	Ovary	ovary
48	chr12:106900600-106905200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:106900800-106905400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:106900800-106905600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links