Variant report

Variant	rs2418250
Chromosome Location	chr9:116128229-116128230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116125894..116128604-chr9:116186096..116187911,2	K562	blood:
2	chr9:116110267..116113559-chr9:116127795..116130030,3	MCF-7	breast:
3	chr9:116124299..116128919-chr9:116129296..116133206,5	K562	blood:
4	chr9:116119997..116122234-chr9:116127833..116130251,2	MCF-7	breast:
5	chr9:116108846..116117047-chr9:116126327..116140994,30	MCF-7	breast:
6	chr9:116127286..116129224-chr9:116135348..116138252,2	K562	blood:
7	chr9:116127846..116129499-chr9:116156115..116158388,2	K562	blood:
8	chr9:116068239..116070626-chr9:116128043..116129865,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119411	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10817486	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10981777	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11791027	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3088235	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41307479	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4979236	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv519849	chr9:116111407-116144973	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1036586	chr9:116118902-116136993	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv615214	chr9:116125789-116149967	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2418250	PRPF4	cis	Stomach	GTEx
rs2418250	CDC26	cis	Heart Left Ventricle	GTEx
rs2418250	PRPF4	cis	Thyroid	GTEx
rs2418250	CDC26	cis	Thyroid	GTEx
rs2418250	PRPF4	cis	lung	GTEx
rs2418250	CDC26	cis	Skin Sun Exposed Lower leg	GTEx
rs2418250	CDC26	cis	Muscle Skeletal	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116113000-116135600	Weak transcription	Colonic Mucosa	Colon
2	chr9:116113000-116138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:116113400-116135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:116113800-116137800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr9:116114200-116136400	Weak transcription	Primary B cells from cord blood	blood
6	chr9:116115400-116135000	Weak transcription	Esophagus	oesophagus
7	chr9:116115600-116132800	Weak transcription	Fetal Intestine Large	intestine
8	chr9:116116400-116137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:116120200-116131800	Weak transcription	Lung	lung
10	chr9:116123000-116132800	Weak transcription	Fetal Stomach	stomach
11	chr9:116123200-116129200	Enhancers	Hela-S3	cervix
12	chr9:116123200-116131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:116123200-116136400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:116123600-116138200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:116123800-116130400	Weak transcription	Stomach Mucosa	stomach
16	chr9:116124000-116135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:116124000-116135000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:116124000-116135600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:116124000-116135600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:116124400-116128400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:116124400-116131600	Weak transcription	Pancreas	Pancrea
22	chr9:116124400-116135600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:116124800-116128800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:116124800-116134200	Weak transcription	Brain Anterior Caudate	brain
25	chr9:116124800-116134400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:116124800-116135000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:116124800-116135200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:116124800-116135400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:116124800-116135800	Weak transcription	Brain Substantia Nigra	brain
30	chr9:116125000-116130600	Weak transcription	Gastric	stomach
31	chr9:116125000-116138000	Weak transcription	Fetal Kidney	kidney
32	chr9:116125200-116133600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:116125200-116135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:116126200-116134400	Weak transcription	Placenta	Placenta
35	chr9:116126400-116128600	Weak transcription	Fetal Intestine Small	intestine
36	chr9:116126800-116133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:116127200-116128400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:116127400-116128400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:116127400-116128800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr9:116127400-116128800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr9:116127800-116128800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr9:116127800-116129000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:116127800-116160400	Weak transcription	Fetal Heart	heart
44	chr9:116128000-116135000	Weak transcription	Left Ventricle	heart
45	chr9:116128000-116135200	Weak transcription	Adipose Nuclei	Adipose
46	chr9:116128200-116128400	Enhancers	HepG2	liver
47	chr9:116128200-116130600	Weak transcription	K562	blood
48	chr9:116128200-116137200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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