Variant report

Variant	rs4902474
Chromosome Location	chr14:67954537-67954538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67954443..67956751-chr14:67999962..68001506,2	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17836777	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2273599	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58299191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67937400-67954800	Weak transcription	Gastric	stomach
3	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
6	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
7	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
8	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
10	chr14:67947200-67954800	Strong transcription	Fetal Intestine Small	intestine
11	chr14:67947200-67955000	Weak transcription	Ovary	ovary
12	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
14	chr14:67950400-67954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:67951800-67954800	Weak transcription	Stomach Mucosa	stomach
16	chr14:67952000-67954800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:67952200-67954800	Enhancers	Right Ventricle	heart
18	chr14:67952200-67954800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:67952200-67955000	Enhancers	Psoas Muscle	Psoas
20	chr14:67952400-67954800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:67952400-67958600	Weak transcription	Fetal Brain Female	brain
22	chr14:67952600-67955000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:67952800-67954600	Weak transcription	Adipose Nuclei	Adipose
24	chr14:67952800-67954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:67952800-67955000	Weak transcription	Liver	Liver
26	chr14:67952800-67955000	Weak transcription	Placenta	Placenta
27	chr14:67952800-67955200	Weak transcription	Brain Substantia Nigra	brain
28	chr14:67952800-67957600	Weak transcription	Fetal Stomach	stomach
29	chr14:67953000-67954600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:67953400-67954600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:67953400-67954800	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:67953400-67955000	Enhancers	Fetal Muscle Leg	muscle
33	chr14:67953600-67954800	Weak transcription	Left Ventricle	heart
34	chr14:67953600-67954800	Enhancers	Right Atrium	heart
35	chr14:67953600-67955000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:67953800-67954600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:67953800-67954600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:67953800-67954600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:67953800-67954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:67953800-67954800	Enhancers	Primary B cells from cord blood	blood
41	chr14:67953800-67954800	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:67953800-67955200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:67953800-67955800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:67953800-67958800	Weak transcription	Fetal Intestine Large	intestine
45	chr14:67954000-67954600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr14:67954000-67954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:67954000-67954600	Enhancers	Dnd41	blood
48	chr14:67954000-67954800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:67954000-67954800	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:67954000-67954800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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