Variant report

Variant	rs7306771
Chromosome Location	chr12:104460934-104460935
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	chr12:104457375..104460043-chr12:104460248..104462043,2	K562	blood:
2	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10778309	0.89[ASW][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.83[YRI][hapmap]
rs10861156	0.83[GIH][hapmap]
rs10861160	0.91[JPT][hapmap]
rs2466551	0.91[JPT][hapmap]
rs2629745	0.82[JPT][hapmap]
rs2629755	0.86[JPT][hapmap]
rs2930856	0.86[JPT][hapmap]
rs715664	0.86[JPT][hapmap]
rs7309185	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]

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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7306771	GNPTAB	cis	parietal	SCAN
rs7306771	GAS2L3	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
4	chr12:104459400-104461800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:104459400-104464000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
7	chr12:104459600-104461600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:104459600-104462800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:104459600-104464000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:104459800-104461000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:104459800-104461000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:104459800-104461400	Enhancers	Fetal Brain Male	brain
16	chr12:104459800-104461800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:104459800-104462400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:104459800-104463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:104459800-104465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104459800-104465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:104459800-104477400	Weak transcription	Gastric	stomach
24	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
25	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
26	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:104460000-104461000	Weak transcription	HSMM	muscle
28	chr12:104460000-104461200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:104460000-104461200	Genic enhancers	Fetal Brain Female	brain
30	chr12:104460000-104461400	Weak transcription	NH-A	brain
31	chr12:104460000-104461600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:104460000-104461600	Weak transcription	Fetal Thymus	thymus
33	chr12:104460000-104461600	Weak transcription	Right Ventricle	heart
34	chr12:104460000-104462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:104460000-104462200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:104460000-104462400	Weak transcription	HUVEC	blood vessel
37	chr12:104460000-104463600	Weak transcription	Stomach Mucosa	stomach
38	chr12:104460000-104464800	Weak transcription	A549	lung
39	chr12:104460000-104464800	Weak transcription	HMEC	breast
40	chr12:104460000-104465000	Weak transcription	Ovary	ovary
41	chr12:104460000-104465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:104460000-104465000	Weak transcription	GM12878-XiMat	blood
43	chr12:104460000-104468400	Strong transcription	Fetal Lung	lung
44	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
50	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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