Variant report

Variant	rs17244848
Chromosome Location	chr5:74643670-74643671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74642848-74643874	K562	blood:	n/a	n/a
2	POLR2A	chr5:74643361-74643878	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74634550..74639803-chr5:74643156..74647439,6	MCF-7	breast:
2	chr5:74635076..74636775-chr5:74642889..74645067,2	K562	blood:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10515198	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742194	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11743717	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11746245	0.85[ASN][1000 genomes]
rs11749414	0.85[ASN][1000 genomes]
rs17238330	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244855	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17562686	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648288	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3761738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761740	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74633800-74645800	Weak transcription	Gastric	stomach
2	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
3	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
4	chr5:74634400-74645400	Weak transcription	Psoas Muscle	Psoas
5	chr5:74634400-74645600	Weak transcription	Esophagus	oesophagus
6	chr5:74634400-74650800	Weak transcription	Aorta	Aorta
7	chr5:74634400-74652400	Weak transcription	Right Ventricle	heart
8	chr5:74634600-74644200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:74635000-74644200	Weak transcription	Brain Angular Gyrus	brain
10	chr5:74635000-74645200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:74635000-74652600	Weak transcription	Fetal Heart	heart
12	chr5:74635600-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:74635800-74644400	Weak transcription	Ovary	ovary
14	chr5:74635800-74645400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:74635800-74646000	Weak transcription	Small Intestine	intestine
16	chr5:74636400-74645400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:74636800-74645800	Weak transcription	Stomach Mucosa	stomach
18	chr5:74636800-74649200	Strong transcription	K562	blood
19	chr5:74636800-74659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:74637200-74655800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:74637200-74659600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:74637800-74658400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:74637800-74658800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:74638200-74658400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:74638200-74659800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
28	chr5:74638400-74657600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:74638400-74657800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:74638400-74659000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:74638400-74659000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:74638400-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:74638400-74659200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:74638400-74659200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr5:74638400-74659800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:74638600-74655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:74638600-74659200	Strong transcription	Dnd41	blood
38	chr5:74638600-74659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:74638600-74659600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:74638600-74660200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:74638600-74660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:74638800-74658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:74638800-74658800	Strong transcription	NHEK	skin
44	chr5:74638800-74659800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:74639000-74656200	Strong transcription	Liver	Liver
46	chr5:74639000-74658000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr5:74639000-74658800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:74639000-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:74639000-74659600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:74639400-74649000	Strong transcription	Hela-S3	cervix

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