Variant report

Variant	rs73297966
Chromosome Location	chr12:51378086-51378087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51377924..51379984-chr12:51420251..51421770,2	MCF-7	breast:
2	chr12:51376070..51378272-chr12:51379860..51382156,2	K562	blood:
3	chr12:51377579..51380145-chr12:51442153..51443726,2	K562	blood:
4	chr12:51375354..51377058-chr12:51377116..51379193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169614	1.00[AMR][1000 genomes]
rs11835513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124979	1.00[AMR][1000 genomes]
rs17125085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809906	1.00[AMR][1000 genomes]
rs56840343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56883422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979742	1.00[AMR][1000 genomes]
rs58343549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58493263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60610335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60720958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60886362	0.98[AFR][1000 genomes]
rs61550892	1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296205	1.00[AMR][1000 genomes]
rs73297927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308073	1.00[AMR][1000 genomes]
rs73308091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311230	1.00[AMR][1000 genomes]
rs73311252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51331800-51382000	Weak transcription	Ovary	ovary
4	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
5	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
6	chr12:51342800-51378400	Weak transcription	NHLF	lung
7	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
8	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
9	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
10	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
12	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:51360600-51381000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:51361600-51382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:51362400-51378600	Weak transcription	NH-A	brain
17	chr12:51362400-51382000	Weak transcription	Lung	lung
18	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
20	chr12:51363600-51381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:51364000-51380400	Weak transcription	K562	blood
22	chr12:51364600-51378400	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:51366000-51378400	Weak transcription	HSMMtube	muscle
25	chr12:51366000-51378600	Weak transcription	HSMM	muscle
26	chr12:51366200-51380000	Weak transcription	Dnd41	blood
27	chr12:51366400-51378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:51366400-51379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:51366600-51380200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:51366800-51378400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:51366800-51378600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:51366800-51382000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:51367000-51379600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:51367000-51380400	Weak transcription	Fetal Brain Female	brain
35	chr12:51367000-51380400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:51367000-51382000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:51367200-51379800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:51367200-51382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:51367200-51382000	Weak transcription	Fetal Stomach	stomach
40	chr12:51367200-51382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:51367400-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:51371600-51380600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51373000-51381000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:51373400-51378800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:51373400-51383400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:51373800-51380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:51374000-51378800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:51374000-51380600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:51374000-51381400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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