Variant report

Variant	rs17119738
Chromosome Location	chr12:50059222-50059223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50057650..50059736-chr12:50100384..50101939,2	K562	blood:
2	chr12:50027133..50028767-chr12:50057357..50059815,2	K562	blood:
3	chr12:50046427..50048004-chr12:50057517..50059329,2	MCF-7	breast:
4	chr12:50058737..50060744-chr12:50060890..50062454,2	K562	blood:
5	chr12:50057880..50060234-chr21:47402833..47404920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128824	1.00[AMR][1000 genomes]
rs11169110	1.00[AMR][1000 genomes]
rs11169114	1.00[AMR][1000 genomes]
rs11169115	1.00[AMR][1000 genomes]
rs11169120	1.00[AMR][1000 genomes]
rs11169123	1.00[AMR][1000 genomes]
rs12297814	1.00[AMR][1000 genomes]
rs12299477	1.00[AMR][1000 genomes]
rs12299666	1.00[AMR][1000 genomes]
rs12299743	1.00[AMR][1000 genomes]
rs12299751	1.00[AMR][1000 genomes]
rs12300376	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs12300919	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12300962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310580	1.00[AMR][1000 genomes]
rs12312112	1.00[AMR][1000 genomes]
rs12313657	1.00[AMR][1000 genomes]
rs12313681	1.00[AMR][1000 genomes]
rs12314036	1.00[AMR][1000 genomes]
rs12315508	1.00[AMR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs12317162	1.00[AMR][1000 genomes]
rs12319527	1.00[AMR][1000 genomes]
rs12320895	1.00[AMR][1000 genomes]
rs1317263	1.00[ASW][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123724	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123787	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123827	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123879	1.00[AMR][1000 genomes]
rs17123924	1.00[AMR][1000 genomes]
rs57625108	1.00[EUR][1000 genomes]
rs58039341	1.00[EUR][1000 genomes]
rs61438877	1.00[EUR][1000 genomes]
rs73305101	1.00[EUR][1000 genomes]
rs73306844	1.00[EUR][1000 genomes]
rs73306846	1.00[EUR][1000 genomes]
rs73306864	1.00[EUR][1000 genomes]
rs73306865	1.00[EUR][1000 genomes]
rs73306875	1.00[EUR][1000 genomes]
rs73306891	1.00[EUR][1000 genomes]
rs73309004	1.00[EUR][1000 genomes]
rs73309010	1.00[EUR][1000 genomes]
rs73309013	1.00[EUR][1000 genomes]
rs73309017	1.00[EUR][1000 genomes]
rs73309026	1.00[EUR][1000 genomes]
rs9804867	1.00[AMR][1000 genomes]
rs9805090	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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
4	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
6	chr12:50053600-50060000	Enhancers	Adipose Nuclei	Adipose
7	chr12:50054400-50059600	Enhancers	Right Atrium	heart
8	chr12:50054400-50060200	Enhancers	Placenta	Placenta
9	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
10	chr12:50054600-50061000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr12:50055200-50059800	Enhancers	Fetal Intestine Large	intestine
12	chr12:50055200-50060000	Enhancers	Brain Anterior Caudate	brain
13	chr12:50055200-50060200	Enhancers	Small Intestine	intestine
14	chr12:50055400-50059600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:50055400-50060800	Genic enhancers	Fetal Stomach	stomach
16	chr12:50055400-50061400	Enhancers	Brain Substantia Nigra	brain
17	chr12:50055600-50062400	Enhancers	Psoas Muscle	Psoas
18	chr12:50056000-50060000	Enhancers	Liver	Liver
19	chr12:50056400-50060000	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:50057000-50059600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:50057000-50060000	Genic enhancers	Fetal Intestine Small	intestine
22	chr12:50057200-50059600	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:50057200-50059600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:50057200-50059600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:50057400-50059400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:50057400-50059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:50057400-50059600	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:50057400-50059600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr12:50057400-50059800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:50057400-50059800	Enhancers	Osteobl	bone
31	chr12:50057400-50060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:50057400-50060000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:50057400-50060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:50057400-50060200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:50057400-50063800	Weak transcription	Ovary	ovary
36	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:50057600-50059400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:50057600-50059400	Enhancers	Fetal Thymus	thymus
39	chr12:50057600-50059800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:50057600-50059800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:50057600-50059800	Enhancers	HUVEC	blood vessel
42	chr12:50057600-50060000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:50057600-50060800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:50057600-50063200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:50057600-50064400	Weak transcription	Gastric	stomach
46	chr12:50057600-50064400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:50057600-50064400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:50057600-50064800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:50057600-50065000	Weak transcription	Pancreas	Pancrea
50	chr12:50057600-50065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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