Variant report

Variant	rs12322626
Chromosome Location	chr12:47630597-47630598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47630475..47633770-chr12:47667087..47670667,4	K562	blood:
2	chr12:47629991..47631742-chr12:47634500..47636385,2	MCF-7	breast:
3	chr12:47629611..47633140-chr12:47634388..47637587,5	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11183817	0.85[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296357	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298308	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299244	1.00[EUR][1000 genomes]
rs17097565	1.00[EUR][1000 genomes]
rs17097665	1.00[EUR][1000 genomes]
rs17097666	1.00[EUR][1000 genomes]
rs58782672	1.00[EUR][1000 genomes]
rs73293898	1.00[AMR][1000 genomes]
rs73293901	1.00[EUR][1000 genomes]
rs73295559	1.00[EUR][1000 genomes]
rs73295573	1.00[EUR][1000 genomes]
rs73297553	1.00[AMR][1000 genomes]
rs73297554	1.00[AMR][1000 genomes]

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
rs12322626	FAM84A	trans	lymphoblastoid	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47617800-47631600	Weak transcription	Small Intestine	intestine
2	chr12:47617800-47632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:47619000-47632800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
6	chr12:47620200-47632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:47623400-47631600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:47625600-47631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:47626600-47630600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:47626800-47631000	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr12:47627600-47632400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:47627600-47632600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:47628800-47630600	ZNF genes & repeats	A549	lung
14	chr12:47628800-47631400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:47628800-47632400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:47629200-47632400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:47629200-47643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:47629400-47641200	Weak transcription	Aorta	Aorta
19	chr12:47629600-47630600	Enhancers	HMEC	breast
20	chr12:47629600-47631600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:47629600-47631800	Weak transcription	Thymus	Thymus
22	chr12:47629800-47630600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:47629800-47630600	Enhancers	Hela-S3	cervix
24	chr12:47629800-47630600	Enhancers	HUVEC	blood vessel
25	chr12:47629800-47630600	Enhancers	NHDF-Ad	bronchial
26	chr12:47629800-47630600	Enhancers	NHLF	lung
27	chr12:47629800-47630600	Enhancers	Osteobl	bone
28	chr12:47629800-47630800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:47629800-47630800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:47629800-47631000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:47629800-47631200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:47629800-47633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:47630000-47630600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:47630000-47630600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:47630000-47630600	Enhancers	Adipose Nuclei	Adipose
36	chr12:47630000-47630600	Enhancers	HSMMtube	muscle
37	chr12:47630000-47630600	Enhancers	NH-A	brain
38	chr12:47630000-47630800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:47630000-47630800	Enhancers	HSMM	muscle
40	chr12:47630000-47631000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:47630000-47631000	Genic enhancers	Primary T cells from cord blood	blood
42	chr12:47630000-47632400	Weak transcription	Ovary	ovary
43	chr12:47630000-47632800	Enhancers	NHEK	skin
44	chr12:47630200-47630600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:47630200-47630600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:47630200-47630800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:47630200-47631000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:47630200-47633000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:47630200-47635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:47630200-47638000	Weak transcription	Placenta	Placenta

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