Variant report

Variant	rs884718
Chromosome Location	chr4:16031448-16031449
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	chr4:16031145..16031923-chr4:16198209..16198930,2	MCF-7	breast:
2	chr4:16021990..16024405-chr4:16030787..16033015,2	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11730129	0.82[EUR][1000 genomes]
rs13133886	0.80[EUR][1000 genomes]
rs2292804	0.82[EUR][1000 genomes]
rs2677795	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs884718	PROM1	cis	Heart Left Ventricle	GTEx
rs884718	PROM1	cis	Artery Aorta	GTEx
rs884718	PROM1	cis	Artery Tibial	GTEx

Chromatin state (count:61 , 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	chr4:16023600-16032400	Weak transcription	Fetal Brain Male	brain
6	chr4:16023600-16033600	Weak transcription	Fetal Brain Female	brain
7	chr4:16025600-16033800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:16025600-16035600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:16025600-16045000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:16025600-16050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:16025800-16036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:16025800-16057600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:16026400-16066600	Weak transcription	Colonic Mucosa	Colon
14	chr4:16026400-16066600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:16027000-16034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:16027200-16039000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:16027600-16036000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:16028400-16033800	Weak transcription	Brain Angular Gyrus	brain
19	chr4:16028600-16033200	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:16030200-16032200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:16030400-16031600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:16030400-16031800	Enhancers	HepG2	liver
23	chr4:16030400-16036000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:16030400-16039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:16030600-16031600	Enhancers	A549	lung
26	chr4:16030600-16031800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:16030600-16031800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:16030600-16031800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:16030600-16032200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:16030600-16032600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:16030800-16031600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:16030800-16031600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:16030800-16031600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr4:16030800-16031600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:16030800-16031600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:16030800-16031600	Enhancers	Hela-S3	cervix
37	chr4:16030800-16031800	Enhancers	Stomach Mucosa	stomach
38	chr4:16030800-16035000	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:16031000-16031600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:16031000-16031600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:16031000-16031600	Enhancers	Adipose Nuclei	Adipose
42	chr4:16031000-16031600	Enhancers	Fetal Muscle Leg	muscle
43	chr4:16031000-16031800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:16031000-16032400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:16031000-16034600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:16031200-16031600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:16031200-16031600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:16031200-16031800	Enhancers	HSMMtube	muscle
49	chr4:16031200-16032800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:16031200-16033200	Weak transcription	Fetal Kidney	kidney

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