Variant report

Variant	rs72675455
Chromosome Location	chr14:39828553-39828554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17855896	1.00[AFR][1000 genomes]
rs55918207	1.00[AFR][1000 genomes]
rs56213532	1.00[ASN][1000 genomes]
rs72673401	1.00[AFR][1000 genomes]
rs72675488	1.00[AFR][1000 genomes]
rs72677634	1.00[AFR][1000 genomes]
rs72677647	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
3	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
4	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
5	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
7	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
8	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
9	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
11	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:39802800-39835400	Weak transcription	Gastric	stomach
13	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
14	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
15	chr14:39803000-39845800	Weak transcription	NHEK	skin
16	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
18	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:39803400-39843800	Weak transcription	HMEC	breast
21	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
22	chr14:39808400-39828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:39808600-39828800	Weak transcription	Fetal Heart	heart
25	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:39809800-39828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
29	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:39812400-39833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:39815600-39832800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
34	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
35	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
36	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
37	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:39817600-39833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:39818200-39832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:39818200-39833200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:39818200-39833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:39818800-39831200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
46	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:39819200-39833600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:39821600-39832800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:39822600-39833400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:39822800-39828600	Weak transcription	Primary T cells from cord blood	blood

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