Variant report

Variant	rs2378862
Chromosome Location	chr14:31882319-31882320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31881736..31883934-chr14:31886217..31888146,4	MCF-7	breast:
2	chr14:31878310..31886086-chr14:31887532..31891135,8	K562	blood:
3	chr14:31881996..31884911-chr14:31918681..31921369,2	MCF-7	breast:
4	chr14:31880032..31886531-chr14:31888185..31891239,11	MCF-7	breast:
5	chr14:31871925..31874502-chr14:31880911..31883683,2	K562	blood:

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10137265	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10872852	1.00[AMR][1000 genomes]
rs11626263	0.81[YRI][hapmap]
rs12587817	1.00[MEX][hapmap]
rs12878225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1958026	1.00[ASN][1000 genomes]
rs2378866	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs41436351	1.00[MEX][hapmap]
rs4981099	1.00[ASN][1000 genomes]
rs4981846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5018104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61994162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571421	1.00[ASW][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs6571424	1.00[ASN][1000 genomes]
rs7146522	1.00[AMR][1000 genomes]
rs7151305	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
3	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
6	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
7	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:31863400-31883200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:31863400-31884400	Weak transcription	Brain Anterior Caudate	brain
10	chr14:31864600-31888400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:31865600-31883200	Weak transcription	NHEK	skin
12	chr14:31865600-31884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:31867000-31886800	Weak transcription	Esophagus	oesophagus
15	chr14:31868000-31883800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:31868200-31887400	Weak transcription	Fetal Intestine Large	intestine
17	chr14:31868400-31883800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:31870600-31883200	Weak transcription	Brain Angular Gyrus	brain
19	chr14:31870600-31888200	Weak transcription	Fetal Stomach	stomach
20	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:31871000-31883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:31871000-31883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:31871000-31883000	Weak transcription	HUVEC	blood vessel
24	chr14:31871000-31883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:31871000-31888400	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:31871200-31883400	Weak transcription	NHDF-Ad	bronchial
28	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:31871600-31883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:31871600-31887400	Weak transcription	Liver	Liver
31	chr14:31871600-31888400	Weak transcription	NH-A	brain
32	chr14:31871800-31887600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:31872000-31882600	Weak transcription	Placenta	Placenta
34	chr14:31872200-31883000	Weak transcription	HSMM	muscle
35	chr14:31872200-31888200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:31872800-31882600	Weak transcription	Aorta	Aorta
37	chr14:31872800-31887000	Weak transcription	Left Ventricle	heart
38	chr14:31874600-31883800	Weak transcription	Spleen	Spleen
39	chr14:31874600-31887000	Weak transcription	Ovary	ovary
40	chr14:31875800-31886000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:31875800-31887600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:31875800-31888200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:31875800-31888200	Weak transcription	K562	blood
44	chr14:31876000-31889000	Weak transcription	Gastric	stomach
45	chr14:31876200-31883400	Weak transcription	Stomach Mucosa	stomach
46	chr14:31878600-31884200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr14:31879000-31888600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:31880000-31883200	Weak transcription	GM12878-XiMat	blood
49	chr14:31880000-31888600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:31880200-31887600	Weak transcription	Primary B cells from cord blood	blood

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