Variant report

Variant	rs5029067
Chromosome Location	chr12:51714720-51714721
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51475962..51477532-chr12:51714487..51716389,2	K562	blood:
2	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
3	chr12:51712171..51715020-chr12:51716929..51719322,2	MCF-7	breast:
4	chr12:51438469..51440828-chr12:51713413..51715859,2	K562	blood:
5	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
6	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
7	chr12:51714696..51717509-chr12:51745471..51747033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10876160	0.86[EUR][1000 genomes]
rs11169794	0.80[EUR][1000 genomes]
rs12228390	0.87[EUR][1000 genomes]
rs2288368	0.86[EUR][1000 genomes]
rs3843650	0.84[EUR][1000 genomes]
rs4435047	0.81[EUR][1000 genomes]
rs4761843	0.84[EUR][1000 genomes]
rs4761845	0.85[ASN][1000 genomes]
rs4762035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4762040	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4762042	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580824	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7955476	0.86[EUR][1000 genomes]
rs7955688	0.86[EUR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:51711200-51716800	Enhancers	Placenta	Placenta
3	chr12:51711800-51715200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51712000-51717600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:51712200-51714800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:51712200-51715600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr12:51712200-51716400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:51712400-51716200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr12:51712400-51717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:51712600-51715200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:51712600-51715600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:51712800-51715000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:51712800-51720200	Weak transcription	HMEC	breast
15	chr12:51713200-51714800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:51713200-51714800	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:51713200-51714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:51713200-51714800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:51713200-51715600	Weak transcription	Esophagus	oesophagus
20	chr12:51713200-51715800	Weak transcription	Small Intestine	intestine
21	chr12:51713200-51717000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:51713200-51717200	Weak transcription	Spleen	Spleen
23	chr12:51713200-51720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:51713400-51714800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:51713400-51714800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:51713800-51715000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:51713800-51715000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:51713800-51715000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:51713800-51715200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:51713800-51716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51714000-51714800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr12:51714000-51715000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:51714000-51715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:51714000-51715000	Enhancers	Fetal Muscle Leg	muscle
35	chr12:51714000-51715200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:51714000-51715400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:51714000-51717000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:51714200-51715000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:51714200-51715000	Enhancers	Stomach Mucosa	stomach
40	chr12:51714200-51715000	Flanking Active TSS	A549	lung
41	chr12:51714200-51715000	Enhancers	Hela-S3	cervix
42	chr12:51714200-51715000	Enhancers	HSMM	muscle
43	chr12:51714200-51715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51714200-51715200	Enhancers	HSMMtube	muscle
45	chr12:51714200-51715200	Flanking Active TSS	K562	blood
46	chr12:51714200-51715200	Enhancers	NHDF-Ad	bronchial
47	chr12:51714200-51715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:51714200-51715600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:51714200-51717800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:51714200-51718400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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