Variant report

Variant	rs28504028
Chromosome Location	chr5:118852711-118852712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10040115	1.00[AFR][1000 genomes]
rs10041122	1.00[AFR][1000 genomes]
rs10041785	1.00[AFR][1000 genomes]
rs10045177	1.00[AFR][1000 genomes]
rs10057263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057643	1.00[AFR][1000 genomes]
rs10061692	1.00[AFR][1000 genomes]
rs10062410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072256	1.00[AFR][1000 genomes]
rs10440770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13357948	1.00[AFR][1000 genomes]
rs13360025	1.00[AFR][1000 genomes]
rs13361084	1.00[AMR][1000 genomes]
rs28558429	1.00[AFR][1000 genomes]
rs28588064	1.00[AFR][1000 genomes]
rs28590215	1.00[AFR][1000 genomes]
rs28673725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28792671	1.00[AFR][1000 genomes]
rs9885037	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118832400-118878200	Weak transcription	NH-A	brain
5	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
7	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
9	chr5:118841000-118856600	Strong transcription	Liver	Liver
10	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:118841200-118880000	Weak transcription	A549	lung
12	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
13	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:118842400-118853000	Strong transcription	Adipose Nuclei	Adipose
15	chr5:118843800-118852800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:118844400-118852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
18	chr5:118846600-118853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:118846800-118857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:118846800-118860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:118846800-118878200	Weak transcription	NHLF	lung
23	chr5:118847000-118854000	Weak transcription	Brain Anterior Caudate	brain
24	chr5:118847000-118854000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:118847000-118854200	Weak transcription	Thymus	Thymus
26	chr5:118847000-118860000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:118847000-118863000	Weak transcription	NHDF-Ad	bronchial
28	chr5:118847000-118868000	Weak transcription	K562	blood
29	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
31	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:118847400-118853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:118847400-118854000	Weak transcription	Spleen	Spleen
35	chr5:118847400-118854200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:118847400-118854200	Weak transcription	Fetal Kidney	kidney
37	chr5:118847400-118856400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:118847400-118861000	Weak transcription	Hela-S3	cervix
39	chr5:118847400-118863000	Weak transcription	HMEC	breast
40	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
46	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
48	chr5:118847600-118854000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:118847600-118863400	Weak transcription	Brain Angular Gyrus	brain
50	chr5:118847600-118865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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