Variant report

Variant	rs73147905
Chromosome Location	chr5:94826019-94826020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94824257..94827228-chr5:94828970..94832558,4	K562	blood:

Variant related genes	Relation type
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11949777	0.94[AFR][1000 genomes]
rs11951564	0.83[AFR][1000 genomes]
rs11951853	0.88[AFR][1000 genomes]
rs11956897	1.00[AMR][1000 genomes]
rs17084844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084856	0.89[AFR][1000 genomes]
rs17084871	0.89[AFR][1000 genomes]
rs17084888	0.88[AFR][1000 genomes]
rs17084908	0.94[AFR][1000 genomes]
rs17084925	0.88[AFR][1000 genomes]
rs2881774	0.94[AFR][1000 genomes]
rs56742088	0.88[AFR][1000 genomes]
rs57414975	0.94[AFR][1000 genomes]
rs57520226	0.88[AFR][1000 genomes]
rs58269886	0.82[AFR][1000 genomes]
rs58364348	0.88[AFR][1000 genomes]
rs59601824	0.88[AFR][1000 genomes]
rs60632886	0.94[AFR][1000 genomes]
rs73145988	1.00[AMR][1000 genomes]
rs73147915	1.00[AFR][1000 genomes]
rs73147917	1.00[AFR][1000 genomes]
rs73147919	1.00[AFR][1000 genomes]
rs73147928	0.89[AFR][1000 genomes]
rs73147929	1.00[AFR][1000 genomes]
rs73147938	0.94[AFR][1000 genomes]
rs73147967	0.88[AFR][1000 genomes]
rs73147968	0.94[AFR][1000 genomes]
rs73147970	0.88[AFR][1000 genomes]
rs7708692	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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94795200-94826600	Weak transcription	NHEK	skin
2	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:94810200-94827400	Strong transcription	Fetal Thymus	thymus
4	chr5:94810600-94827600	Strong transcription	Placenta	Placenta
5	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
6	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr5:94812400-94835600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:94815400-94827600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:94815400-94853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:94816200-94827400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:94816200-94827400	Strong transcription	HUVEC	blood vessel
12	chr5:94816400-94827400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:94816400-94827400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:94816800-94827400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:94817200-94849000	Weak transcription	Small Intestine	intestine
16	chr5:94817400-94865600	Strong transcription	Osteobl	bone
17	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:94819200-94827400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr5:94819600-94828000	Strong transcription	HSMMtube	muscle
20	chr5:94820000-94827200	Strong transcription	Colon Smooth Muscle	Colon
21	chr5:94820200-94827400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:94821600-94827200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:94821600-94827200	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr5:94821600-94827600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:94821800-94828000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr5:94822000-94826600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr5:94822000-94827200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:94822200-94827400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:94822400-94827200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:94822400-94830600	Strong transcription	HSMM	muscle
31	chr5:94822400-94835800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:94822400-94839600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:94822400-94840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:94822400-94847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:94822600-94836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:94822800-94826800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr5:94822800-94827200	Strong transcription	Hela-S3	cervix
38	chr5:94823000-94826200	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr5:94823000-94827200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:94823000-94827200	Strong transcription	HMEC	breast
41	chr5:94823000-94827400	Strong transcription	NH-A	brain
42	chr5:94823200-94827200	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr5:94823200-94827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:94823200-94834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:94823200-94839600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:94823400-94834000	Weak transcription	Right Ventricle	heart
47	chr5:94823400-94834800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:94823400-94834800	Weak transcription	Pancreas	Pancrea
49	chr5:94824400-94827200	Strong transcription	Ovary	ovary
50	chr5:94824400-94827400	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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