Variant report

Variant	rs73039305
Chromosome Location	chr1:172014194-172014195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172010806..172014950-chr1:172015227..172019111,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12058617	1.00[EUR][1000 genomes]
rs16843624	1.00[EUR][1000 genomes]
rs41476749	1.00[EUR][1000 genomes]
rs479185	1.00[EUR][1000 genomes]
rs493630	1.00[EUR][1000 genomes]
rs493657	1.00[EUR][1000 genomes]
rs530846	1.00[EUR][1000 genomes]
rs532194	1.00[EUR][1000 genomes]
rs551742	1.00[EUR][1000 genomes]
rs558496	1.00[EUR][1000 genomes]
rs57282067	1.00[EUR][1000 genomes]
rs57446042	1.00[EUR][1000 genomes]
rs59123048	1.00[EUR][1000 genomes]
rs59949348	1.00[EUR][1000 genomes]
rs609222	1.00[EUR][1000 genomes]
rs642312	1.00[EUR][1000 genomes]
rs650603	1.00[EUR][1000 genomes]
rs654524	1.00[EUR][1000 genomes]
rs73039324	1.00[EUR][1000 genomes]
rs73039369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043064	1.00[EUR][1000 genomes]
rs74126542	1.00[EUR][1000 genomes]
rs74126543	1.00[EUR][1000 genomes]
rs74126545	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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	nsv3532	chr1:171997451-172042351	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3374464	chr1:172014139-172023467	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:172001400-172019000	Weak transcription	Fetal Brain Male	brain
3	chr1:172005600-172015200	Weak transcription	HSMMtube	muscle
4	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:172007600-172014800	Weak transcription	Thymus	Thymus
6	chr1:172009200-172022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:172010000-172022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:172010400-172022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:172010600-172014800	Weak transcription	Aorta	Aorta
10	chr1:172010600-172022400	Weak transcription	HMEC	breast
11	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:172010800-172019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:172010800-172022400	Weak transcription	NHEK	skin
14	chr1:172010800-172037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:172011000-172019600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:172011400-172037800	Weak transcription	Ovary	ovary
17	chr1:172012400-172015000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:172012600-172022600	Weak transcription	Fetal Lung	lung
19	chr1:172012800-172015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:172013000-172022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:172013200-172014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:172013200-172014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:172013400-172014200	Enhancers	Dnd41	blood
24	chr1:172013400-172014800	Strong transcription	Brain Anterior Caudate	brain
25	chr1:172013400-172015200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr1:172013800-172014200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:172013800-172014200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:172013800-172014600	Strong transcription	Brain Germinal Matrix	brain
29	chr1:172013800-172015000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:172013800-172015000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:172013800-172015000	Strong transcription	Fetal Brain Female	brain
32	chr1:172013800-172015200	Strong transcription	Brain Angular Gyrus	brain
33	chr1:172013800-172015200	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:172013800-172015200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:172014000-172014200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:172014000-172014200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:172014000-172014200	Strong transcription	Brain Substantia Nigra	brain
38	chr1:172014000-172014200	Enhancers	Fetal Kidney	kidney
39	chr1:172014000-172014200	ZNF genes & repeats	Lung	lung
40	chr1:172014000-172023800	Weak transcription	Primary T cells from cord blood	blood

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