Variant report

Variant	rs57520670
Chromosome Location	chr1:173702732-173702733
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173691682..173694241-chr1:173700147..173703100,2	K562	blood:
2	chr1:173683476..173686159-chr1:173702055..173703669,2	K562	blood:
3	chr1:173701895..173703429-chr1:173835621..173837927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000076321	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2126126	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28865644	0.82[AFR][1000 genomes]
rs35515638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56660187	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193236	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60656154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286800	0.87[AFR][1000 genomes]
rs6425260	1.00[AMR][1000 genomes]
rs6663103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674573	1.00[AMR][1000 genomes]
rs6694637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031308	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033104	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033138	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037030	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037062	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542780	0.89[AFR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
2	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
3	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
5	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:173685800-173702800	Weak transcription	NH-A	brain
8	chr1:173685800-173703000	Weak transcription	Osteobl	bone
9	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:173686200-173702800	Weak transcription	NHEK	skin
11	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
12	chr1:173686800-173702800	Weak transcription	Gastric	stomach
13	chr1:173686800-173703000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
15	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
17	chr1:173687000-173702800	Weak transcription	HepG2	liver
18	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
21	chr1:173694600-173704000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:173694600-173706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:173694600-173708000	Weak transcription	Fetal Heart	heart
24	chr1:173694600-173724800	Weak transcription	HMEC	breast
25	chr1:173694800-173703000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
27	chr1:173695000-173702800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:173695000-173702800	Weak transcription	HSMM	muscle
29	chr1:173695000-173702800	Weak transcription	NHLF	lung
30	chr1:173695000-173703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:173695000-173703000	Weak transcription	GM12878-XiMat	blood
32	chr1:173695000-173703000	Weak transcription	K562	blood
33	chr1:173695000-173703200	Weak transcription	Fetal Brain Male	brain
34	chr1:173695000-173718000	Weak transcription	A549	lung
35	chr1:173695200-173703000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:173695200-173703000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:173695400-173702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:173695400-173702800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:173695400-173702800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:173695400-173703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:173695400-173704800	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:173695600-173702800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:173695600-173702800	Weak transcription	Colonic Mucosa	Colon
46	chr1:173695600-173702800	Weak transcription	Fetal Intestine Large	intestine
47	chr1:173695600-173702800	Weak transcription	Dnd41	blood
48	chr1:173695600-173702800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:173695600-173703000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:173695600-173721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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