Variant report

Variant	rs74081384
Chromosome Location	chr12:46112869-46112870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46102452..46106078-chr12:46112003..46116824,4	K562	blood:
2	chr12:46085115..46087445-chr12:46112760..46114475,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10161001	1.00[EUR][1000 genomes]
rs10161062	1.00[EUR][1000 genomes]
rs10161510	1.00[EUR][1000 genomes]
rs10880858	1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs11183135	1.00[EUR][1000 genomes]
rs11183136	1.00[EUR][1000 genomes]
rs11183197	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11183199	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12296933	1.00[EUR][1000 genomes]
rs12297214	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12301665	1.00[EUR][1000 genomes]
rs12302862	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12305110	1.00[EUR][1000 genomes]
rs12309988	1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12316361	0.82[AFR][1000 genomes]
rs12316726	1.00[EUR][1000 genomes]
rs12321106	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28583490	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4522236	1.00[EUR][1000 genomes]
rs55916269	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56338250	1.00[EUR][1000 genomes]
rs58253063	1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs59340060	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs6582575	1.00[EUR][1000 genomes]
rs7132585	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7133123	1.00[EUR][1000 genomes]
rs7296694	1.00[EUR][1000 genomes]
rs7303119	1.00[EUR][1000 genomes]
rs7308856	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308893	1.00[EUR][1000 genomes]
rs7309921	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081401	1.00[EUR][1000 genomes]
rs74084208	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7953515	1.00[EUR][1000 genomes]
rs7964495	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7972650	1.00[EUR][1000 genomes]
rs7973967	1.00[EUR][1000 genomes]
rs7975170	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7975408	1.00[EUR][1000 genomes]
rs7977711	1.00[EUR][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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:46099600-46113000	Weak transcription	Psoas Muscle	Psoas
4	chr12:46099600-46115600	Weak transcription	Ovary	ovary
5	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:46101400-46115600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:46103400-46115200	Weak transcription	Small Intestine	intestine
8	chr12:46104200-46113000	Weak transcription	Dnd41	blood
9	chr12:46105000-46116600	Weak transcription	Fetal Kidney	kidney
10	chr12:46106400-46115400	Weak transcription	GM12878-XiMat	blood
11	chr12:46106400-46115600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:46106400-46115600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:46106600-46115000	Weak transcription	Fetal Brain Female	brain
14	chr12:46107600-46115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:46107600-46118000	Weak transcription	NHEK	skin
16	chr12:46107600-46118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:46107600-46118800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:46107600-46119000	Weak transcription	HSMM	muscle
19	chr12:46108400-46118600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:46108600-46115800	Weak transcription	Aorta	Aorta
21	chr12:46108800-46119000	Weak transcription	Fetal Stomach	stomach
22	chr12:46109000-46113000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:46109000-46116800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:46109200-46115400	Weak transcription	Thymus	Thymus
25	chr12:46109400-46115600	Weak transcription	Esophagus	oesophagus
26	chr12:46110000-46116600	Weak transcription	Fetal Heart	heart
27	chr12:46110400-46119000	Weak transcription	Right Ventricle	heart
28	chr12:46110600-46119800	Weak transcription	Pancreas	Pancrea
29	chr12:46110800-46113000	Weak transcription	Primary T cells from cord blood	blood
30	chr12:46111000-46119000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:46111200-46113600	Enhancers	Colon Smooth Muscle	Colon
32	chr12:46111600-46117800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:46111600-46119200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:46111800-46114400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:46111800-46117200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:46112000-46113200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:46112000-46114200	Enhancers	Left Ventricle	heart
38	chr12:46112000-46117200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:46112000-46118600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:46112200-46119000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:46112400-46113200	Enhancers	HepG2	liver
42	chr12:46112400-46113400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:46112400-46117800	Weak transcription	Fetal Intestine Large	intestine
44	chr12:46112400-46118800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:46112600-46113000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:46112600-46113600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:46112600-46113600	Strong transcription	Fetal Thymus	thymus
48	chr12:46112600-46114800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:46112600-46115600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:46112600-46117800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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