Variant report

Variant	rs8017643
Chromosome Location	chr14:31771932-31771933
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31675823..31678133-chr14:31770206..31772918,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10132718	0.86[AMR][1000 genomes]
rs10139022	1.00[MEX][hapmap]
rs10872852	1.00[JPT][hapmap]
rs11626263	1.00[JPT][hapmap]
rs12100784	1.00[ASN][1000 genomes]
rs12100791	1.00[ASN][1000 genomes]
rs12434943	1.00[JPT][hapmap]
rs12587817	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2378860	0.89[MKK][hapmap]
rs2378866	1.00[JPT][hapmap]
rs56881376	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61741258	1.00[ASN][1000 genomes]
rs6571421	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7151305	1.00[JPT][hapmap]
rs74043915	1.00[ASN][1000 genomes]
rs8005617	1.00[JPT][hapmap]
rs8012411	1.00[ASN][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
3	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
4	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:31758000-31775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
7	chr14:31760800-31772800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:31760800-31773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:31760800-31774000	Weak transcription	Primary B cells from cord blood	blood
10	chr14:31760800-31776400	Weak transcription	Stomach Mucosa	stomach
11	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
12	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:31762200-31785200	Weak transcription	HMEC	breast
16	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
18	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
19	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
20	chr14:31763200-31783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:31763400-31780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:31763400-31781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:31763400-31784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:31763600-31774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:31763600-31784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:31764400-31775000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:31764800-31784200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31766800-31774000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:31766800-31778200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
31	chr14:31767400-31781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:31767600-31778400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:31767800-31773600	Strong transcription	HSMMtube	muscle
35	chr14:31767800-31778600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:31767800-31783000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:31767800-31783800	Weak transcription	K562	blood
38	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
39	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
41	chr14:31768000-31805800	Weak transcription	NHEK	skin
42	chr14:31768200-31776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:31768200-31783800	Strong transcription	Placenta	Placenta
44	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
45	chr14:31768400-31773000	Weak transcription	GM12878-XiMat	blood
46	chr14:31768400-31779600	Strong transcription	Osteobl	bone
47	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
48	chr14:31768800-31775800	Strong transcription	Fetal Stomach	stomach
49	chr14:31769000-31777200	Strong transcription	Left Ventricle	heart
50	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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