Variant report

Variant	rs10473972
Chromosome Location	chr5:74653462-74653463
allele	G/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	chr5:74653446-74653746	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:74653432-74654187	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:74652087-74663712	K562	blood:	n/a	n/a
4	POLR2A	chr5:74652929-74653908	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:74653430-74653758	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:74653314-74653718	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:74652490-74663640	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74645396..74648342-chr5:74649968..74653709,3	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10038723	0.87[ASN][1000 genomes]
rs10053643	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434644	0.82[ASN][1000 genomes]
rs10462517	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10474434	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474436	0.82[ASN][1000 genomes]
rs11957913	0.82[ASN][1000 genomes]
rs12234032	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17238484	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609217	0.86[ASN][1000 genomes]
rs2878418	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28851300	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3761742	0.82[ASN][1000 genomes]
rs3761743	0.87[ASN][1000 genomes]
rs3846665	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3846666	0.86[ASN][1000 genomes]
rs3931914	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4385188	0.82[ASN][1000 genomes]
rs4703670	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4704214	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4704224	0.86[ASN][1000 genomes]
rs6453134	0.87[ASN][1000 genomes]
rs6872314	0.82[ASN][1000 genomes]
rs698912	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7356637	0.82[ASN][1000 genomes]
rs7700468	0.87[ASN][1000 genomes]
rs7701925	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7732854	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7737959	0.87[ASN][1000 genomes]
rs9885386	0.86[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	chr5:74635600-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74636800-74659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:74637200-74655800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:74637200-74659600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:74637800-74658400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:74637800-74658800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:74638200-74658400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:74638200-74659800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
11	chr5:74638400-74657600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:74638400-74657800	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr5:74638400-74659000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:74638400-74659000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:74638400-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:74638400-74659200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:74638400-74659200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:74638400-74659800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:74638600-74655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:74638600-74659200	Strong transcription	Dnd41	blood
21	chr5:74638600-74659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:74638600-74659600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:74638600-74660200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:74638600-74660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:74638800-74658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:74638800-74658800	Strong transcription	NHEK	skin
27	chr5:74638800-74659800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:74639000-74656200	Strong transcription	Liver	Liver
29	chr5:74639000-74658000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr5:74639000-74658800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:74639000-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:74639000-74659600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:74639400-74658800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:74639400-74659200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:74639400-74660000	Strong transcription	NHLF	lung
36	chr5:74639400-74660400	Strong transcription	HMEC	breast
37	chr5:74639600-74658000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:74639600-74659000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:74639600-74659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:74639600-74659400	Strong transcription	Placenta	Placenta
41	chr5:74639800-74656000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:74639800-74657800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:74639800-74660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:74640400-74659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:74641000-74659200	Strong transcription	Fetal Intestine Large	intestine
46	chr5:74641200-74659000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:74641400-74658400	Strong transcription	Adipose Nuclei	Adipose
48	chr5:74641600-74656400	Strong transcription	Brain Germinal Matrix	brain
49	chr5:74641600-74657800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:74642000-74655200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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