Variant report

Variant	rs8006424
Chromosome Location	chr14:71189916-71189917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71189704..71191620-chr14:71192243..71194827,2	MCF-7	breast:
2	chr14:71189656..71192635-chr14:71218301..71220303,2	MCF-7	breast:
3	chr14:71189314..71191908-chr14:71220289..71222021,3	MCF-7	breast:
4	chr14:71188747..71190799-chr14:71193873..71196833,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED6-3	chr14:71189244-71193302	NONHSAT037576

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129307	0.89[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs12879569	0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1476610	0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2023955	0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2107665	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2158526	0.84[ASN][1000 genomes]
rs2158527	0.84[ASN][1000 genomes]
rs3814872	0.81[MKK][hapmap]
rs4141095	0.89[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4899367	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899368	0.81[MKK][hapmap]
rs4902863	1.00[YRI][hapmap]
rs6573978	0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7152246	0.83[ASN][1000 genomes]
rs7155910	0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs8011047	0.89[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap]

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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71177200-71195600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:71179800-71193200	Weak transcription	Right Atrium	heart
3	chr14:71180600-71193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:71180600-71196800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:71180600-71196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71180800-71193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:71180800-71196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:71181200-71195800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:71183200-71190200	Enhancers	Fetal Intestine Small	intestine
11	chr14:71183200-71192200	Enhancers	Fetal Intestine Large	intestine
12	chr14:71184400-71194400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:71185400-71198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:71185800-71196400	Weak transcription	Colonic Mucosa	Colon
15	chr14:71185800-71196600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:71185800-71198600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
18	chr14:71186000-71190000	Weak transcription	Placenta	Placenta
19	chr14:71186000-71190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:71186000-71190600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:71186000-71195400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:71186000-71195600	Weak transcription	Pancreas	Pancrea
23	chr14:71186000-71196600	Weak transcription	Gastric	stomach
24	chr14:71186000-71196600	Weak transcription	Lung	lung
25	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
27	chr14:71186200-71190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:71187400-71190000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:71188000-71190200	Enhancers	HepG2	liver
30	chr14:71188000-71196800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:71188400-71190400	Enhancers	A549	lung
32	chr14:71188600-71190600	Weak transcription	NHEK	skin
33	chr14:71188600-71193200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:71188600-71195600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:71188600-71198600	Weak transcription	Liver	Liver
36	chr14:71188800-71190800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:71188800-71191200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:71188800-71192800	Weak transcription	Psoas Muscle	Psoas
39	chr14:71188800-71193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:71188800-71194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:71188800-71198400	Strong transcription	HMEC	breast
42	chr14:71189600-71190400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:71189600-71193800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:71189600-71196000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:71189600-71196000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:71189800-71190000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:71189800-71190600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:71189800-71192000	Enhancers	Esophagus	oesophagus
49	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain

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