Variant report

Variant	rs60830598
Chromosome Location	chr13:97910081-97910082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:97877382..97879571-chr13:97908923..97910852,2	MCF-7	breast:
2	chr13:97907577..97910911-chr13:97913686..97917322,4	K562	blood:
3	chr13:97885894..97888799-chr13:97909158..97911920,2	K562	blood:
4	chr13:97869881..97871500-chr13:97909687..97911691,2	K562	blood:
5	chr13:97892207..97896967-chr13:97905810..97911512,6	K562	blood:
6	chr13:97905079..97913701-chr13:97925818..97929496,9	MCF-7	breast:
7	chr13:97892207..97897500-chr13:97905924..97911512,9	K562	blood:
8	chr13:97872386..97875317-chr13:97909878..97911986,2	MCF-7	breast:
9	chr13:97909774..97912087-chr13:97975388..97977213,2	K562	blood:
10	chr13:97791209..97794724-chr13:97910045..97913597,5	K562	blood:
11	chr13:97909017..97912106-chr13:97925849..97929151,3	MCF-7	breast:
12	chr13:97792540..97794724-chr13:97910045..97912283,3	K562	blood:
13	chr13:97909467..97910424-chr3:44666367..44667052,2	HCT-116	colon:
14	chr13:97907616..97910279-chr13:97990865..97992598,2	MCF-7	breast:
15	chr13:97871969..97881145-chr13:97906530..97915784,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186448	Chromatin interaction
ENSG00000139793	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12323277	0.88[EUR][1000 genomes]
rs17235593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301327	0.81[AFR][1000 genomes]
rs17301334	0.81[AFR][1000 genomes]
rs17301341	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60259333	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73555749	0.81[AFR][1000 genomes]
rs73555754	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555756	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555759	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555760	0.94[EUR][1000 genomes]
rs73555771	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584535	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045777	chr13:97875574-97955134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97903200-97912600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr13:97903200-97913600	Weak transcription	Fetal Brain Male	brain
3	chr13:97903400-97920600	Weak transcription	Thymus	Thymus
4	chr13:97905600-97914800	Enhancers	Small Intestine	intestine
5	chr13:97906200-97916200	Enhancers	Brain Angular Gyrus	brain
6	chr13:97906600-97910200	Enhancers	Osteobl	bone
7	chr13:97906600-97910800	Enhancers	NHLF	lung
8	chr13:97906600-97913200	Enhancers	Stomach Mucosa	stomach
9	chr13:97906800-97910200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:97906800-97910800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:97906800-97911000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:97906800-97911000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:97906800-97912000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr13:97906800-97912600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:97906800-97912800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:97906800-97913000	Enhancers	NHDF-Ad	bronchial
17	chr13:97906800-97914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:97906800-97915800	Enhancers	Brain Hippocampus Middle	brain
19	chr13:97906800-97916200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:97906800-97919800	Enhancers	Brain Anterior Caudate	brain
21	chr13:97907000-97910800	Enhancers	Adipose Nuclei	Adipose
22	chr13:97907000-97910800	Enhancers	HSMMtube	muscle
23	chr13:97907000-97911200	Enhancers	Stomach Smooth Muscle	stomach
24	chr13:97907000-97911400	Strong transcription	Primary B cells from cord blood	blood
25	chr13:97907000-97914600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:97907000-97914800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:97907000-97915000	Enhancers	Colon Smooth Muscle	Colon
28	chr13:97907000-97915600	Enhancers	Rectal Smooth Muscle	rectum
29	chr13:97907000-97915800	Enhancers	Brain Cingulate Gyrus	brain
30	chr13:97907200-97911400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr13:97907200-97912200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:97907200-97914800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:97907200-97914800	Enhancers	Psoas Muscle	Psoas
34	chr13:97907200-97916000	Enhancers	Right Ventricle	heart
35	chr13:97907400-97911600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:97907800-97911400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:97908000-97910200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr13:97908000-97911000	Enhancers	Duodenum Mucosa	Duodenum
39	chr13:97908400-97910600	Strong transcription	Primary T cells from cord blood	blood
40	chr13:97908600-97910200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr13:97908600-97910800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:97908600-97910800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:97908600-97911000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:97908600-97912600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:97908600-97914400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr13:97908800-97910200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:97908800-97910400	Flanking Active TSS	Hela-S3	cervix
48	chr13:97908800-97910600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:97908800-97910600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:97908800-97910800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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