Variant report

Variant	rs73274678
Chromosome Location	chr14:63938874-63938875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10483772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58971087	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274663	1.00[AFR][1000 genomes]
rs73274669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022747	0.92[AFR][1000 genomes];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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
2	chr14:63921000-63944600	Weak transcription	Dnd41	blood
3	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:63922200-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:63928000-63939600	Weak transcription	Primary B cells from cord blood	blood
6	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:63933600-63939400	Weak transcription	Fetal Heart	heart
10	chr14:63934200-63939600	Weak transcription	Colonic Mucosa	Colon
11	chr14:63934400-63939400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:63934600-63940600	Weak transcription	Brain Substantia Nigra	brain
14	chr14:63934800-63939200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:63935000-63939400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr14:63935000-63939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:63935200-63939600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:63935400-63939600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:63936000-63940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
22	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:63936800-63939000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:63936800-63939000	Enhancers	Psoas Muscle	Psoas
25	chr14:63936800-63940400	Enhancers	Small Intestine	intestine
26	chr14:63936800-63941800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:63937000-63941200	Enhancers	Liver	Liver
28	chr14:63937000-63941600	Weak transcription	Right Atrium	heart
29	chr14:63937200-63939400	Weak transcription	Spleen	Spleen
30	chr14:63937200-63940800	Enhancers	NHEK	skin
31	chr14:63937200-63941000	Weak transcription	Esophagus	oesophagus
32	chr14:63937400-63939200	Enhancers	HUVEC	blood vessel
33	chr14:63937400-63939400	Enhancers	NHLF	lung
34	chr14:63937400-63939600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:63937400-63939600	Enhancers	Duodenum Mucosa	Duodenum
36	chr14:63937400-63941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:63937600-63939000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:63937600-63939000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:63937600-63939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:63937600-63939000	Enhancers	Left Ventricle	heart
41	chr14:63937600-63939200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:63937600-63939400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:63937600-63939400	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:63937600-63939600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr14:63937600-63939600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:63937600-63939800	Enhancers	Brain Anterior Caudate	brain
47	chr14:63937600-63939800	Enhancers	Fetal Intestine Small	intestine
48	chr14:63937600-63940000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr14:63937600-63940200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:63937600-63940600	Enhancers	Colon Smooth Muscle	Colon

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