Variant report

Variant	rs12307085
Chromosome Location	chr12:50994175-50994176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50992844..50995799-chr12:51006499..51009259,2	K562	blood:
2	chr12:50993262..50995250-chr12:51001088..51003468,2	K562	blood:
3	chr12:50898995..50900548-chr12:50993141..50995760,2	MCF-7	breast:
4	chr12:50984662..50986250-chr12:50994111..50996016,2	MCF-7	breast:
5	chr12:50944577..50947139-chr12:50993451..50996143,2	MCF-7	breast:
6	chr12:50992473..50996334-chr12:50996356..50999257,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12300290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2037453	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2253376	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2464125	0.87[AMR][1000 genomes]
rs2468378	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2684895	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2684896	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2684897	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2684904	0.87[AMR][1000 genomes]
rs2684905	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2684907	0.87[AMR][1000 genomes]
rs2684909	1.00[AMR][1000 genomes]
rs2700476	0.87[AMR][1000 genomes]
rs2700477	1.00[AMR][1000 genomes]
rs2700481	0.87[AMR][1000 genomes]
rs2700483	0.87[AMR][1000 genomes]
rs2731437	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2731438	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2731441	0.87[AMR][1000 genomes]
rs2731444	0.87[AMR][1000 genomes]
rs2731445	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2731446	1.00[AMR][1000 genomes]
rs2731447	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2731448	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4259895	1.00[AMR][1000 genomes]
rs4768896	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6580759	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7312349	1.00[AMR][1000 genomes]
rs7313783	1.00[AMR][1000 genomes]
rs7976281	1.00[AMR][1000 genomes]
rs939634	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
5	chr12:50979400-50997200	Weak transcription	Pancreas	Pancrea
6	chr12:50979400-50997200	Weak transcription	Spleen	Spleen
7	chr12:50981400-50997400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:50988800-50994200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:50989400-50997600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:50990200-50997400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:50991200-50994400	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:50991200-50994400	Enhancers	Brain Angular Gyrus	brain
13	chr12:50991200-50995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:50991400-51006600	Weak transcription	Esophagus	oesophagus
15	chr12:50991600-50994400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:50991600-50994400	Enhancers	Brain Anterior Caudate	brain
17	chr12:50991600-50994400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:50991600-50995000	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:50991600-50997000	Weak transcription	Ovary	ovary
20	chr12:50991600-50997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:50991600-50998200	Weak transcription	Right Ventricle	heart
22	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:50991800-50994200	Weak transcription	Stomach Mucosa	stomach
25	chr12:50991800-50997400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50991800-51003200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:50991800-51003200	Weak transcription	Small Intestine	intestine
28	chr12:50991800-51006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:50992000-50994200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:50992000-50994200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:50992000-50994400	Enhancers	Brain Hippocampus Middle	brain
32	chr12:50992000-50994600	Enhancers	HUVEC	blood vessel
33	chr12:50992000-50995000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:50992000-50995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:50992000-50997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:50992000-50997400	Weak transcription	Fetal Brain Male	brain
37	chr12:50992000-50999000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:50992000-51006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:50992200-50994600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:50992200-50997400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:50992200-50997600	Weak transcription	Brain Germinal Matrix	brain
42	chr12:50992200-51005400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:50992400-50994200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:50992400-50994200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:50992400-50994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:50992400-50994200	Weak transcription	Gastric	stomach
47	chr12:50992400-50995000	Enhancers	Brain Substantia Nigra	brain
48	chr12:50992400-50995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:50992400-50997000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:50992400-50997200	Weak transcription	Fetal Muscle Leg	muscle

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