Variant report

Variant	rs866881
Chromosome Location	chr12:47621118-47621119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47606333..47607962-chr12:47619491..47621970,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs214694	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214700	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214704	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214707	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs214711	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2524344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs832709	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs832741	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs866881	C12orf68	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
3	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
5	chr12:47617200-47628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47617200-47628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47617200-47629000	Weak transcription	NHEK	skin
8	chr12:47617400-47625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:47617600-47626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:47617800-47621200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:47617800-47624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:47617800-47626800	Weak transcription	Lung	lung
13	chr12:47617800-47628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:47617800-47628400	Weak transcription	Spleen	Spleen
15	chr12:47617800-47629400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:47617800-47631600	Weak transcription	Small Intestine	intestine
17	chr12:47617800-47632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:47618000-47625600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:47618000-47627800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:47618000-47628400	Weak transcription	HMEC	breast
21	chr12:47618000-47629000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:47618000-47629400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:47618400-47624200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:47618400-47625400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:47618600-47621200	Weak transcription	Fetal Intestine Small	intestine
26	chr12:47618600-47621400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:47618600-47622000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:47618600-47622000	Weak transcription	HepG2	liver
29	chr12:47618600-47630000	Weak transcription	HSMM	muscle
30	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:47618800-47624800	Weak transcription	Fetal Intestine Large	intestine
32	chr12:47619000-47628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:47619000-47632800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
35	chr12:47619400-47621200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:47619600-47627600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:47619800-47624200	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr12:47619800-47627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:47620000-47623400	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr12:47620000-47623400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:47620200-47621600	Weak transcription	Liver	Liver
42	chr12:47620200-47625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:47620200-47630200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:47620200-47632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:47620400-47621800	Genic enhancers	Primary T cells from cord blood	blood
46	chr12:47620400-47622200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:47620400-47624400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:47620400-47624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:47620600-47621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:47620600-47621600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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