Variant report

Variant	rs60862458
Chromosome Location	chr14:31444336-31444337
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	chr14:31442796..31445236-chr14:31495645..31497455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459471	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483356	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483359	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11625390	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627379	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097531	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097614	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097617	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977130	0.83[AMR][1000 genomes]
rs2064823	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2073204	0.87[AFR][1000 genomes]
rs2281563	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2378815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784158	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55708493	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55843943	0.83[AMR][1000 genomes]
rs56136496	0.83[AMR][1000 genomes]
rs60990438	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61129484	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571374	0.83[AMR][1000 genomes]
rs7140551	0.83[AMR][1000 genomes]
rs72668381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670303	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008526	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31436400-31457200	Weak transcription	HSMM	muscle
9	chr14:31436400-31457800	Weak transcription	NHEK	skin
10	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:31439000-31444400	Enhancers	HepG2	liver
12	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
13	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
17	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:31441200-31457400	Weak transcription	NH-A	brain
20	chr14:31441600-31445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:31441600-31449800	Weak transcription	K562	blood
22	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:31441800-31444600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:31442000-31446400	Enhancers	Liver	Liver
25	chr14:31442200-31445000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:31442200-31445600	Enhancers	Brain Hippocampus Middle	brain
27	chr14:31442200-31445800	Enhancers	Adipose Nuclei	Adipose
28	chr14:31442400-31449800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
30	chr14:31442400-31494400	Weak transcription	Gastric	stomach
31	chr14:31442600-31457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:31442800-31444400	Enhancers	Hela-S3	cervix
33	chr14:31443000-31444400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:31443200-31450600	Weak transcription	Primary T cells from cord blood	blood
36	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:31443400-31447400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:31443400-31451400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:31443400-31460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:31443800-31444400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:31443800-31444400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:31443800-31444600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:31444000-31444400	Enhancers	A549	lung
46	chr14:31444000-31444600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:31444000-31444600	Enhancers	Aorta	Aorta
48	chr14:31444000-31445400	Weak transcription	Brain Substantia Nigra	brain
49	chr14:31444000-31450400	Weak transcription	GM12878-XiMat	blood
50	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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