Variant report

Variant	rs42485
Chromosome Location	chr5:14261092-14261093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14260701..14263279-chr5:14263395..14266329,3	K562	blood:
2	chr5:14257321..14259050-chr5:14260298..14262168,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13175673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164861	1.00[ASN][1000 genomes]
rs17302408	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187125	1.00[ASN][1000 genomes]
rs2434605	1.00[ASN][1000 genomes]
rs245577	1.00[ASN][1000 genomes]
rs2607077	1.00[ASN][1000 genomes]
rs2607078	1.00[ASN][1000 genomes]
rs2697663	1.00[ASN][1000 genomes]
rs30616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30617	1.00[ASN][1000 genomes]
rs30619	1.00[ASN][1000 genomes]
rs30620	1.00[ASN][1000 genomes]
rs34045422	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs354305	1.00[ASN][1000 genomes]
rs354308	1.00[ASN][1000 genomes]
rs39856	1.00[ASN][1000 genomes]
rs706271	1.00[ASN][1000 genomes]
rs71614082	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs773701	1.00[ASN][1000 genomes]
rs773702	1.00[ASN][1000 genomes]
rs773763	1.00[ASN][1000 genomes]
rs799025	1.00[ASN][1000 genomes]
rs897724	1.00[ASN][1000 genomes]
rs897726	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14253800-14264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:14254000-14261400	Weak transcription	Thymus	Thymus
3	chr5:14255400-14262400	Enhancers	HUVEC	blood vessel
4	chr5:14256200-14264200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:14256400-14265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:14256600-14264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:14256800-14261800	Enhancers	Colon Smooth Muscle	Colon
8	chr5:14257000-14264600	Enhancers	NH-A	brain
9	chr5:14257200-14264800	Weak transcription	Stomach Mucosa	stomach
10	chr5:14257200-14265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:14257600-14261800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:14258200-14261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:14258400-14261400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:14258400-14261400	Enhancers	Osteobl	bone
15	chr5:14258400-14264600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:14258600-14261200	Weak transcription	NHEK	skin
17	chr5:14258600-14261800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:14258800-14264400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:14258800-14265000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:14259000-14261200	Weak transcription	Small Intestine	intestine
21	chr5:14259000-14261800	Enhancers	NHLF	lung
22	chr5:14259000-14264600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:14259000-14264600	Weak transcription	Fetal Brain Male	brain
24	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
25	chr5:14259200-14261200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:14259200-14261200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:14259200-14261200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:14259200-14261200	Weak transcription	Placenta	Placenta
29	chr5:14259200-14261400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:14259200-14261400	Weak transcription	Lung	lung
31	chr5:14259200-14262000	Weak transcription	Pancreas	Pancrea
32	chr5:14259200-14262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:14259200-14263400	Weak transcription	HepG2	liver
34	chr5:14259200-14263800	Weak transcription	Primary B cells from cord blood	blood
35	chr5:14259200-14264400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:14259200-14264600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:14259200-14264600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:14259200-14264600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:14259200-14264600	Enhancers	Brain Germinal Matrix	brain
40	chr5:14259200-14264600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:14259200-14264600	Weak transcription	Psoas Muscle	Psoas
42	chr5:14259200-14264600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:14259200-14264600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:14259200-14265000	Weak transcription	Colonic Mucosa	Colon
45	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
47	chr5:14259200-14268600	Weak transcription	Gastric	stomach
48	chr5:14259400-14261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:14259400-14261200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:14259400-14262400	Weak transcription	Ovary	ovary

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