Variant report

Variant	rs253338
Chromosome Location	chr5:16841126-16841127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13187027	0.83[EUR][1000 genomes]
rs17707735	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs185235	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs253337	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62369354	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv461987	chr5:16834568-16848200	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv597310	chr5:16834568-16848200	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16818000-16846600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:16820000-16841600	Weak transcription	Fetal Kidney	kidney
3	chr5:16820200-16842600	Weak transcription	HMEC	breast
4	chr5:16820400-16845400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:16820600-16845000	Weak transcription	NH-A	brain
6	chr5:16820800-16843000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:16820800-16855200	Weak transcription	HSMM	muscle
8	chr5:16823600-16841600	Weak transcription	HUVEC	blood vessel
9	chr5:16825400-16842800	Weak transcription	NHLF	lung
10	chr5:16827200-16841400	Weak transcription	Fetal Stomach	stomach
11	chr5:16828000-16852400	Weak transcription	NHDF-Ad	bronchial
12	chr5:16828400-16842800	Weak transcription	NHEK	skin
13	chr5:16828600-16841200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:16829400-16842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:16829400-16855800	Weak transcription	Fetal Intestine Small	intestine
16	chr5:16829800-16841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:16829800-16841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:16830000-16841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:16830000-16842400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:16830400-16846600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:16832400-16855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:16834400-16846200	Weak transcription	Osteobl	bone
23	chr5:16834600-16842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:16834600-16842400	Weak transcription	Gastric	stomach
25	chr5:16834800-16853400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:16835200-16841400	Weak transcription	Stomach Mucosa	stomach
27	chr5:16835200-16841800	Weak transcription	Pancreas	Pancrea
28	chr5:16836400-16843400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:16838000-16841800	Weak transcription	HSMMtube	muscle
30	chr5:16838200-16853600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:16838800-16841200	Weak transcription	Fetal Lung	lung
32	chr5:16839000-16841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:16839000-16853000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:16839000-16855800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:16839000-16864600	Weak transcription	Fetal Brain Female	brain
36	chr5:16839200-16841600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:16839200-16849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:16839400-16841200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:16839600-16842200	Weak transcription	Fetal Brain Male	brain
40	chr5:16839800-16841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:16839800-16841600	Weak transcription	Ovary	ovary
42	chr5:16840600-16842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:16840600-16842400	Weak transcription	Lung	lung
44	chr5:16840600-16843200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:16840800-16841200	Weak transcription	A549	lung
46	chr5:16840800-16841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:16840800-16841600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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