Variant report

Variant	rs73388201
Chromosome Location	chr12:105076926-105076927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105075358..105077039-chr12:105078970..105081222,2	K562	blood:
2	chr12:105074936..105077629-chr12:105083624..105085773,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1014046	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306264	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313211	0.86[EUR][1000 genomes]
rs56176681	0.87[EUR][1000 genomes]
rs73390104	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105067800-105078600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:105067800-105096000	Weak transcription	K562	blood
4	chr12:105068000-105077600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:105068200-105078600	Weak transcription	NHDF-Ad	bronchial
6	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:105071800-105079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:105072200-105079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:105073000-105077400	Weak transcription	Fetal Heart	heart
12	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105074400-105077800	Weak transcription	Spleen	Spleen
15	chr12:105074400-105079800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:105074600-105079400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:105075000-105083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:105075600-105078000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:105075800-105077600	Enhancers	Fetal Thymus	thymus
21	chr12:105076000-105077000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:105076000-105077000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr12:105076000-105077000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:105076000-105077000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:105076000-105077000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:105076000-105077000	Enhancers	Placenta	Placenta
27	chr12:105076000-105077800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:105076000-105078200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:105076000-105080200	Enhancers	Fetal Stomach	stomach
30	chr12:105076200-105077000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:105076200-105077000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:105076200-105077000	Enhancers	Right Atrium	heart
33	chr12:105076200-105077200	Flanking Active TSS	GM12878-XiMat	blood
34	chr12:105076200-105077400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr12:105076200-105077600	Enhancers	Right Ventricle	heart
36	chr12:105076200-105080400	Enhancers	Colon Smooth Muscle	Colon
37	chr12:105076400-105077000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:105076400-105077000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr12:105076400-105077000	Enhancers	Brain Anterior Caudate	brain
40	chr12:105076400-105077200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr12:105076600-105077000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr12:105076600-105077000	Enhancers	Left Ventricle	heart
43	chr12:105076600-105077000	Enhancers	Lung	lung
44	chr12:105076600-105077600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:105076600-105080000	Weak transcription	A549	lung
46	chr12:105076800-105077000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:105076800-105077600	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:105076800-105077600	Enhancers	Thymus	Thymus
49	chr12:105076800-105077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:105076800-105077800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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