Variant report

Variant	rs9739192
Chromosome Location	chr12:56294428-56294429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128982	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1052206	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10747760	0.84[EUR][1000 genomes]
rs10783774	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783775	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876858	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10876861	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876862	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11171688	0.88[ASN][1000 genomes]
rs1136082	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12298127	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320309	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1463592	0.80[ASN][1000 genomes]
rs1681070	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1681082	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1701698	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1701699	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1807168	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2101718	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4414258	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61956428	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6581086	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6581087	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs705711	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs705715	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7135133	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297871	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7308505	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7312870	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs772461	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs772462	0.81[EUR][1000 genomes]
rs772468	0.80[EUR][1000 genomes]
rs772473	0.82[ASN][1000 genomes]
rs772475	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs772700	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979046	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9739196	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
3	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
4	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:56289200-56294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
8	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
9	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:56291400-56294800	Weak transcription	Hela-S3	cervix
11	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
12	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:56292600-56294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:56292600-56294800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:56292600-56298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56292800-56295000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:56292800-56295200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:56292800-56295400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:56292800-56295400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:56292800-56295400	Weak transcription	Dnd41	blood
22	chr12:56292800-56295400	Weak transcription	NHEK	skin
23	chr12:56292800-56295600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:56292800-56295600	Weak transcription	Aorta	Aorta
25	chr12:56292800-56295600	Weak transcription	Gastric	stomach
26	chr12:56292800-56295600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:56292800-56295800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:56292800-56296800	Weak transcription	Colonic Mucosa	Colon
29	chr12:56292800-56297200	Strong transcription	Fetal Brain Female	brain
30	chr12:56292800-56297600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:56292800-56297600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:56292800-56297600	Strong transcription	Primary B cells from cord blood	blood
33	chr12:56292800-56297600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:56292800-56297800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:56292800-56298000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:56293000-56294800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:56293000-56294800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:56293000-56295000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:56293000-56295200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:56293000-56295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:56293000-56295400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:56293000-56295400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:56293000-56295400	Weak transcription	Small Intestine	intestine
45	chr12:56293000-56297200	Strong transcription	Placenta	Placenta
46	chr12:56293000-56298000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:56293000-56307800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:56293200-56294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:56293200-56294800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:56293200-56296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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