Variant report

Variant	rs11730129
Chromosome Location	chr4:16032948-16032949
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	chr4:16021990..16024405-chr4:16030787..16033015,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10939649	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133886	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400771	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850507	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292804	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449214	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs884718	0.82[EUR][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	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11730129	PROM1	cis	Artery Aorta	GTEx
rs11730129	TAPT1	cis	Artery Aorta	GTEx
rs11730129	PROM1	cis	Artery Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15988400-16033800	Weak transcription	Pancreas	Pancrea
2	chr4:16008000-16033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:16009200-16033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:16010800-16038600	Weak transcription	Placenta	Placenta
5	chr4:16023600-16033600	Weak transcription	Fetal Brain Female	brain
6	chr4:16025600-16033800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:16025600-16035600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:16025600-16045000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:16025600-16050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:16025800-16036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:16025800-16057600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:16026400-16066600	Weak transcription	Colonic Mucosa	Colon
13	chr4:16026400-16066600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:16027000-16034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:16027200-16039000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:16027600-16036000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:16028400-16033800	Weak transcription	Brain Angular Gyrus	brain
18	chr4:16028600-16033200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:16030400-16036000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:16030400-16039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:16030800-16035000	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:16031000-16034600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:16031200-16033200	Weak transcription	Fetal Kidney	kidney
24	chr4:16031200-16033800	Weak transcription	Fetal Stomach	stomach
25	chr4:16031200-16034200	Weak transcription	Fetal Heart	heart
26	chr4:16031200-16035200	Weak transcription	Liver	Liver
27	chr4:16031200-16035600	Weak transcription	Aorta	Aorta
28	chr4:16031200-16035800	Weak transcription	NHDF-Ad	bronchial
29	chr4:16031200-16040000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:16031400-16033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:16031400-16033200	Weak transcription	HUVEC	blood vessel
32	chr4:16031400-16033800	Weak transcription	NH-A	brain
33	chr4:16031600-16033200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:16031600-16033200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:16031600-16033200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:16031600-16033200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr4:16031600-16033200	Weak transcription	Adipose Nuclei	Adipose
38	chr4:16031600-16034000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:16031600-16034600	Weak transcription	Hela-S3	cervix
40	chr4:16031600-16035800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:16031600-16036000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:16031600-16036000	Weak transcription	A549	lung
43	chr4:16031800-16033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:16031800-16033000	Weak transcription	Stomach Mucosa	stomach
45	chr4:16031800-16033000	Weak transcription	HepG2	liver
46	chr4:16031800-16035600	Weak transcription	HSMMtube	muscle
47	chr4:16032000-16033000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:16032000-16033200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:16032400-16033000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:16032400-16036600	Enhancers	Fetal Brain Male	brain

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