Variant report

Variant	rs7142126
Chromosome Location	chr14:31864300-31864301
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	chr14:31854043..31856997-chr14:31862023..31864715,2	MCF-7	breast:
2	chr14:31863925..31866635-chr14:31868935..31870560,2	K562	blood:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148667	0.93[AMR][1000 genomes]
rs10782377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs10872852	0.82[LWK][hapmap];0.95[MKK][hapmap]
rs12587817	0.95[MKK][hapmap]
rs17097906	0.87[GIH][hapmap];0.82[JPT][hapmap]
rs17555805	0.82[JPT][hapmap];0.91[AMR][1000 genomes]
rs2378860	1.00[GIH][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes]
rs2378861	0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.93[AMR][1000 genomes]
rs4981843	0.91[AMR][1000 genomes]
rs6571419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6571420	0.95[AFR][1000 genomes]
rs6571422	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7141532	0.80[AMR][1000 genomes]
rs7150876	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7151099	0.98[AFR][1000 genomes];0.93[AMR][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	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
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
8	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
14	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
15	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
16	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
17	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:31838000-31875000	Weak transcription	K562	blood
19	chr14:31841400-31864800	Weak transcription	NHEK	skin
20	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:31844200-31865200	Weak transcription	Right Ventricle	heart
23	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
25	chr14:31847800-31865200	Weak transcription	NHLF	lung
26	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:31849400-31865400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31851000-31872600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:31851200-31870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:31851200-31872400	Strong transcription	HepG2	liver
31	chr14:31851600-31872800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:31852400-31867400	Weak transcription	HUVEC	blood vessel
33	chr14:31853000-31866800	Weak transcription	Fetal Brain Female	brain
34	chr14:31853000-31867400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:31853000-31870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31853000-31870400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:31853200-31875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
39	chr14:31853600-31870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:31854600-31867000	Weak transcription	Brain Substantia Nigra	brain
41	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:31855000-31867000	Weak transcription	A549	lung
43	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
44	chr14:31856200-31865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:31856600-31865600	Weak transcription	NH-A	brain
46	chr14:31856800-31865200	Strong transcription	HSMM	muscle
47	chr14:31858600-31868800	Weak transcription	GM12878-XiMat	blood
48	chr14:31859200-31867600	Strong transcription	Left Ventricle	heart
49	chr14:31859200-31871800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:31859200-31872000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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