Variant report

Variant	rs7146697
Chromosome Location	chr14:63939231-63939232
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11847169	1.00[AMR][1000 genomes]
rs1472504	1.00[AMR][1000 genomes]
rs17101245	1.00[AMR][1000 genomes]
rs17101253	1.00[AMR][1000 genomes]
rs1988781	1.00[AMR][1000 genomes]
rs57530734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308869	1.00[AMR][1000 genomes]
rs59282502	1.00[AMR][1000 genomes]
rs7142618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157776	1.00[AMR][1000 genomes]
rs8014212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63921000-63944600	Weak transcription	Dnd41	blood
2	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:63928000-63939600	Weak transcription	Primary B cells from cord blood	blood
4	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:63933600-63939400	Weak transcription	Fetal Heart	heart
8	chr14:63934200-63939600	Weak transcription	Colonic Mucosa	Colon
9	chr14:63934400-63939400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:63934600-63940600	Weak transcription	Brain Substantia Nigra	brain
12	chr14:63935000-63939400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:63935000-63939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:63935200-63939600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:63935400-63939600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:63936000-63940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:63936800-63940400	Enhancers	Small Intestine	intestine
21	chr14:63936800-63941800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:63937000-63941200	Enhancers	Liver	Liver
23	chr14:63937000-63941600	Weak transcription	Right Atrium	heart
24	chr14:63937200-63939400	Weak transcription	Spleen	Spleen
25	chr14:63937200-63940800	Enhancers	NHEK	skin
26	chr14:63937200-63941000	Weak transcription	Esophagus	oesophagus
27	chr14:63937400-63939400	Enhancers	NHLF	lung
28	chr14:63937400-63939600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:63937400-63939600	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:63937400-63941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:63937600-63939400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:63937600-63939400	Enhancers	Rectal Smooth Muscle	rectum
33	chr14:63937600-63939600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:63937600-63939600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr14:63937600-63939800	Enhancers	Brain Anterior Caudate	brain
36	chr14:63937600-63939800	Enhancers	Fetal Intestine Small	intestine
37	chr14:63937600-63940000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr14:63937600-63940200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:63937600-63940600	Enhancers	Colon Smooth Muscle	Colon
40	chr14:63937600-63941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:63937600-63941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:63937600-63941400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr14:63937600-63941400	Enhancers	Fetal Intestine Large	intestine
44	chr14:63937600-63942400	Enhancers	K562	blood
45	chr14:63937800-63941000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:63937800-63941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:63937800-63941200	Enhancers	Hela-S3	cervix
48	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
49	chr14:63938000-63940400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr14:63938000-63940400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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