Variant report

Variant	rs1998311
Chromosome Location	chr14:55130715-55130716
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55128710..55133148-chr14:55134666..55138375,4	MCF-7	breast:
2	chr14:55125524..55127369-chr14:55129748..55131714,2	MCF-7	breast:
3	chr14:55031224..55035117-chr14:55130293..55133965,6	MCF-7	breast:
4	chr14:55032575..55034843-chr14:55129879..55133964,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11623863	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56380805	0.92[EUR][1000 genomes]
rs57146234	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976963	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147215	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs911620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs911622	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9806117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2755395	chr14:55125925-55149486	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55119000-55132400	Enhancers	HepG2	liver
2	chr14:55119800-55135800	Weak transcription	Fetal Brain Male	brain
3	chr14:55120000-55179400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:55120800-55137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:55121000-55138200	Weak transcription	Aorta	Aorta
6	chr14:55121400-55136400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:55121800-55135600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:55121800-55135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:55121800-55135800	Weak transcription	NH-A	brain
10	chr14:55122000-55131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:55122000-55134000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:55122000-55134200	Weak transcription	NHLF	lung
13	chr14:55122000-55136200	Weak transcription	Osteobl	bone
14	chr14:55122200-55131200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:55122200-55133800	Weak transcription	NHDF-Ad	bronchial
16	chr14:55122200-55136000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:55124800-55134200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:55125800-55133800	Weak transcription	HSMM	muscle
19	chr14:55126200-55131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:55126200-55132600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:55126200-55133800	Weak transcription	Spleen	Spleen
22	chr14:55127400-55131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55127600-55132000	Weak transcription	HSMMtube	muscle
24	chr14:55127600-55134000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:55127800-55131200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:55128000-55131400	Enhancers	Left Ventricle	heart
27	chr14:55128800-55133200	Enhancers	HUVEC	blood vessel
28	chr14:55129400-55130800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:55129400-55130800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:55129400-55131400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:55129600-55136200	Weak transcription	A549	lung
32	chr14:55129600-55136400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:55129600-55139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:55129800-55131600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:55129800-55132600	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:55129800-55132800	Weak transcription	Lung	lung
37	chr14:55129800-55132800	Weak transcription	Psoas Muscle	Psoas
38	chr14:55129800-55132800	Weak transcription	Right Atrium	heart
39	chr14:55129800-55133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:55129800-55133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:55129800-55134200	Weak transcription	Adipose Nuclei	Adipose
42	chr14:55129800-55134200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:55129800-55134200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:55129800-55136800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:55129800-55138200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:55130000-55134200	Weak transcription	Fetal Stomach	stomach
47	chr14:55130200-55131400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:55130200-55133200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr14:55130200-55133400	Enhancers	NHEK	skin
50	chr14:55130200-55136200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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