Variant report

Variant	rs4147126
Chromosome Location	chr10:45407333-45407334
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45406784..45409410-chr10:45454257..45456258,2	K562	blood:

Variant related genes	Relation type
ENSG00000273363	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000224812	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10793563	0.80[EUR][1000 genomes]
rs10900125	0.80[EUR][1000 genomes]
rs1332625	0.83[EUR][1000 genomes]
rs2026427	0.80[EUR][1000 genomes]
rs2183994	0.81[EUR][1000 genomes]
rs2281840	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs4948922	0.80[EUR][1000 genomes]
rs7082011	0.80[EUR][1000 genomes]
rs7099692	0.83[EUR][1000 genomes]
rs7894608	0.81[EUR][1000 genomes]
rs879343	0.84[EUR][1000 genomes]
rs879344	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4147126	RASSF4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
2	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
4	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
5	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
6	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:45405000-45408000	Weak transcription	Thymus	Thymus
9	chr10:45405000-45408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:45405600-45407600	Enhancers	Fetal Intestine Small	intestine
11	chr10:45405800-45407600	Enhancers	Fetal Intestine Large	intestine
12	chr10:45405800-45409000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr10:45406000-45407400	Enhancers	Stomach Mucosa	stomach
14	chr10:45406000-45407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:45406000-45407800	Enhancers	Ovary	ovary
16	chr10:45406200-45407400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:45406200-45407600	Enhancers	Spleen	Spleen
18	chr10:45406200-45408800	Enhancers	Fetal Heart	heart
19	chr10:45406400-45407600	Active TSS	Rectal Smooth Muscle	rectum
20	chr10:45406400-45408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:45406400-45408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:45406400-45409000	Enhancers	K562	blood
23	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:45406600-45407400	Flanking Active TSS	Colonic Mucosa	Colon
25	chr10:45406600-45407600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:45406600-45407600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr10:45406600-45407600	Enhancers	Gastric	stomach
28	chr10:45406600-45408000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr10:45406600-45408400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:45406600-45408800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:45406600-45409000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:45406600-45409400	Active TSS	Fetal Kidney	kidney
33	chr10:45406600-45410000	Enhancers	Lung	lung
34	chr10:45406800-45407400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr10:45406800-45407600	Enhancers	Right Ventricle	heart
36	chr10:45406800-45407800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:45406800-45407800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr10:45407000-45407400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr10:45407000-45407400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr10:45407000-45407400	Enhancers	Fetal Stomach	stomach
41	chr10:45407000-45408200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr10:45407000-45408600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:45407200-45407400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:45407200-45408000	Bivalent Enhancer	HepG2	liver
45	chr10:45407200-45408200	Weak transcription	Left Ventricle	heart
46	chr10:45407200-45408600	Weak transcription	Right Atrium	heart
47	chr10:45407200-45408800	Weak transcription	Fetal Lung	lung
48	chr10:45407200-45409000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:45407200-45410000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:45407200-45411600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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