Variant report

Variant	rs3850022
Chromosome Location	chr12:104462374-104462375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104457600..104461691-chr12:104461792..104464629,3	K562	blood:
2	chr12:104457600..104460197-chr12:104462156..104464629,2	K562	blood:
3	chr12:104461547..104463720-chr12:104464282..104467136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10507174	0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10507175	0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs10778309	0.89[CHB][hapmap];0.95[CHD][hapmap]
rs11111885	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11111898	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12422505	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12423684	0.85[ASN][1000 genomes]
rs12423844	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12424943	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12426862	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12427339	0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs12582966	0.85[ASN][1000 genomes]
rs12825521	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17192854	0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17805748	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17805766	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17806643	0.86[CHD][hapmap];0.89[MEX][hapmap]
rs35142441	0.82[ASN][1000 genomes]
rs4131750	0.95[CHD][hapmap]
rs4340124	0.82[ASN][1000 genomes]
rs56074043	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57381687	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59079741	0.82[ASN][1000 genomes]
rs59644448	0.85[ASN][1000 genomes]
rs61647968	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937639	0.85[ASN][1000 genomes]
rs61937641	0.84[ASN][1000 genomes]
rs61937642	0.84[ASN][1000 genomes]
rs61939180	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939183	0.85[ASN][1000 genomes]
rs61939188	0.84[ASN][1000 genomes]
rs61939190	0.82[ASN][1000 genomes]
rs61939192	0.82[ASN][1000 genomes]
rs7979648	1.00[ASW][hapmap];0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MKK][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	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

No data

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	chr12:104459400-104464000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
6	chr12:104459600-104462800	Weak transcription	Primary B cells from cord blood	blood
7	chr12:104459600-104464000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:104459800-104462400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:104459800-104463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:104459800-104465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:104459800-104465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:104459800-104477400	Weak transcription	Gastric	stomach
18	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
19	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
20	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104460000-104462400	Weak transcription	HUVEC	blood vessel
22	chr12:104460000-104463600	Weak transcription	Stomach Mucosa	stomach
23	chr12:104460000-104464800	Weak transcription	A549	lung
24	chr12:104460000-104464800	Weak transcription	HMEC	breast
25	chr12:104460000-104465000	Weak transcription	Ovary	ovary
26	chr12:104460000-104465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:104460000-104465000	Weak transcription	GM12878-XiMat	blood
28	chr12:104460000-104468400	Strong transcription	Fetal Lung	lung
29	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
35	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:104460000-104496800	Weak transcription	HepG2	liver
37	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
38	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
39	chr12:104460200-104462400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:104460200-104462400	Weak transcription	Thymus	Thymus
41	chr12:104460200-104463000	Weak transcription	Primary T cells from cord blood	blood
42	chr12:104460200-104463400	Weak transcription	NHLF	lung
43	chr12:104460200-104464800	Weak transcription	Brain Anterior Caudate	brain
44	chr12:104460200-104465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:104460200-104468200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:104460200-104472600	Weak transcription	Fetal Heart	heart
47	chr12:104460200-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:104460200-104476600	Weak transcription	NHEK	skin
49	chr12:104460400-104463200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:104460400-104464200	Weak transcription	Muscle Satellite Cultured Cells	--

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