Variant report

Variant	rs9788104
Chromosome Location	chr12:45773740-45773741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45773696..45775338-chr12:45776877..45779787,2	K562	blood:
2	chr12:45607198..45608699-chr12:45771420..45773776,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12321278	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578188	0.83[CHB][hapmap]
rs12578337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578601	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580320	0.83[CHB][hapmap]
rs12581525	0.83[CHB][hapmap]
rs17095736	0.83[CHB][hapmap]
rs17095781	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17095784	0.83[CHB][hapmap]
rs17095830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095835	0.82[AMR][1000 genomes]
rs17095855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095860	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17095861	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17095862	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17095866	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs17095884	0.82[AMR][1000 genomes]
rs17095890	0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1913694	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34756223	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41338444	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4583038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151528	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57056104	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57121130	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57160874	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57455310	0.82[AMR][1000 genomes]
rs57985291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58028140	1.00[AFR][1000 genomes]
rs58282976	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58674935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348316	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60452259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60688397	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60794282	1.00[AFR][1000 genomes]
rs61276164	0.82[AMR][1000 genomes]
rs61351713	1.00[AFR][1000 genomes]
rs61484865	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7132433	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138476	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299292	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
7	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
9	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
13	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
14	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:45763400-45796000	Weak transcription	Osteobl	bone
17	chr12:45764200-45774000	Weak transcription	Lung	lung
18	chr12:45764200-45774000	Weak transcription	Ovary	ovary
19	chr12:45764200-45774400	Weak transcription	Spleen	Spleen
20	chr12:45764200-45778600	Weak transcription	Aorta	Aorta
21	chr12:45764200-45779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:45764400-45775000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:45764400-45776600	Weak transcription	HSMMtube	muscle
24	chr12:45764400-45776800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:45764400-45777000	Weak transcription	Fetal Kidney	kidney
26	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:45764600-45776200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:45764600-45776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:45764600-45776800	Weak transcription	NH-A	brain
32	chr12:45764600-45778200	Weak transcription	GM12878-XiMat	blood
33	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:45764800-45774000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:45764800-45775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:45764800-45775400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:45764800-45775600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:45764800-45776200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:45764800-45776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:45764800-45778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:45770800-45773800	Enhancers	HUVEC	blood vessel
43	chr12:45770800-45780600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:45771200-45774400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:45771200-45775400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:45771200-45780400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:45771200-45781400	Strong transcription	Primary B cells from cord blood	blood
48	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
50	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links