Variant report

Variant	rs29450
Chromosome Location	chr5:16909677-16909678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs194135	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs29448	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs29449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs29454	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active 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 target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16896000-16912400	Weak transcription	Esophagus	oesophagus
2	chr5:16898200-16912600	Weak transcription	NH-A	brain
3	chr5:16899800-16910000	Weak transcription	HUVEC	blood vessel
4	chr5:16899800-16910800	Weak transcription	HMEC	breast
5	chr5:16902000-16912800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:16902200-16913800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:16902200-16919000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:16902200-16930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:16904400-16912400	Weak transcription	NHDF-Ad	bronchial
10	chr5:16904400-16912400	Weak transcription	NHLF	lung
11	chr5:16904400-16912400	Weak transcription	Osteobl	bone
12	chr5:16904400-16933200	Weak transcription	Fetal Stomach	stomach
13	chr5:16904600-16910400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:16904600-16912400	Weak transcription	HSMM	muscle
15	chr5:16904800-16913600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:16905200-16910400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:16905800-16911600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:16906200-16912400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:16906400-16909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:16906400-16912400	Weak transcription	Fetal Intestine Small	intestine
21	chr5:16906400-16912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:16906400-16912800	Weak transcription	Gastric	stomach
23	chr5:16906400-16913600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:16906800-16909800	Weak transcription	Stomach Mucosa	stomach
25	chr5:16906800-16913600	Weak transcription	Psoas Muscle	Psoas
26	chr5:16907000-16910200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:16907000-16911600	Weak transcription	Lung	lung
28	chr5:16907000-16912400	Weak transcription	Hela-S3	cervix
29	chr5:16907000-16913600	Weak transcription	Spleen	Spleen
30	chr5:16907600-16910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:16907600-16910600	Weak transcription	Small Intestine	intestine
32	chr5:16907600-16912400	Weak transcription	NHEK	skin
33	chr5:16907800-16912400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:16908000-16912200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:16908000-16912600	Weak transcription	HSMMtube	muscle
36	chr5:16908200-16909800	Weak transcription	Placenta	Placenta
37	chr5:16908200-16913800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:16908800-16913600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:16909000-16910400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:16909200-16910200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:16909200-16910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:16909400-16909800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:16909400-16910200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:16909400-16910400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:16909400-16912400	Weak transcription	Colonic Mucosa	Colon
46	chr5:16909400-16914600	Enhancers	Pancreas	Pancrea
47	chr5:16909400-16916400	Enhancers	Ovary	ovary
48	chr5:16909600-16910000	Enhancers	Fetal Muscle Leg	muscle
49	chr5:16909600-16910200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:16909600-16910200	Enhancers	Fetal Lung	lung

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