Variant report

Variant	rs2010630
Chromosome Location	chr12:51469759-51469760
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	chr12:51441202..51443113-chr12:51468336..51471322,2	K562	blood:
2	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10783413	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876127	0.86[ASN][1000 genomes]
rs10876129	0.86[ASN][1000 genomes]
rs10876131	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10876132	0.82[ASN][1000 genomes]
rs10876138	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169695	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12379	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424509	0.82[ASN][1000 genomes]
rs12427345	0.86[ASN][1000 genomes]
rs1466579	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1486014	0.86[ASN][1000 genomes]
rs15756	0.84[ASN][1000 genomes]
rs2018042	0.81[AMR][1000 genomes]
rs2029145	0.86[ASN][1000 genomes]
rs2029146	0.86[ASN][1000 genomes]
rs224572	0.82[ASN][1000 genomes]
rs2730655	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs370462	0.82[ASN][1000 genomes]
rs3759405	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs427020	0.82[ASN][1000 genomes]
rs4768970	0.82[EUR][1000 genomes]
rs4991549	0.84[EUR][1000 genomes]
rs55874804	0.86[ASN][1000 genomes]
rs61934800	0.86[ASN][1000 genomes]
rs6580782	0.86[ASN][1000 genomes]
rs6580787	0.83[EUR][1000 genomes]
rs6580791	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7135399	0.86[ASN][1000 genomes]
rs7136960	0.86[ASN][1000 genomes]
rs7953867	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7971308	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976431	0.86[ASN][1000 genomes]
rs901313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9739342	0.86[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
4	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:51445600-51469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:51445600-51470400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:51445600-51470600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51449800-51470000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:51453400-51470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51454000-51475400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:51454200-51470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:51454200-51475600	Weak transcription	Stomach Mucosa	stomach
13	chr12:51455400-51470400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:51455400-51470800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:51455600-51470400	Strong transcription	Brain Germinal Matrix	brain
16	chr12:51456400-51470400	Strong transcription	Fetal Intestine Small	intestine
17	chr12:51459000-51471400	Weak transcription	Fetal Heart	heart
18	chr12:51459000-51475600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:51459800-51475800	Weak transcription	GM12878-XiMat	blood
20	chr12:51461800-51475200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:51462000-51469800	Weak transcription	Psoas Muscle	Psoas
22	chr12:51462000-51475800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:51462000-51475800	Weak transcription	Pancreas	Pancrea
24	chr12:51462000-51476400	Weak transcription	Gastric	stomach
25	chr12:51462600-51474400	Weak transcription	Fetal Kidney	kidney
26	chr12:51463600-51470000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:51463800-51470200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:51463800-51470400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:51463800-51470600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:51464200-51470800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:51464400-51470000	Weak transcription	K562	blood
32	chr12:51464400-51475800	Weak transcription	HMEC	breast
33	chr12:51464600-51470000	Strong transcription	Lung	lung
34	chr12:51464800-51475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:51465200-51469800	Strong transcription	Placenta	Placenta
36	chr12:51465800-51471400	Weak transcription	Fetal Brain Male	brain
37	chr12:51465800-51471800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:51466000-51470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:51466000-51470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:51466000-51471400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:51466000-51471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:51466000-51475400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:51466000-51475400	Weak transcription	A549	lung
44	chr12:51466200-51471600	Weak transcription	NHDF-Ad	bronchial
45	chr12:51466400-51475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:51466800-51475800	Weak transcription	Hela-S3	cervix
47	chr12:51467200-51470000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:51467200-51475600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:51467200-51475800	Weak transcription	Primary B cells from cord blood	blood
50	chr12:51467400-51476200	Weak transcription	Colonic Mucosa	Colon

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