Variant report

Variant	rs9403541
Chromosome Location	chr6:144293998-144293999
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	SP1	chr6:144293944-144294968	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr6:144293977-144295132	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144286109..144288326-chr6:144291907..144294386,3	K562	blood:
2	chr6:144285004..144287609-chr6:144292204..144295096,3	K562	blood:

Variant related genes	Relation type
PLAGL1	TF binding region
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9386054	1.00[ASN][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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:144281800-144294800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:144284800-144294400	Weak transcription	Fetal Brain Male	brain
7	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
8	chr6:144285400-144294200	Weak transcription	Left Ventricle	heart
9	chr6:144286800-144294200	Weak transcription	Fetal Brain Female	brain
10	chr6:144287000-144294400	Weak transcription	Lung	lung
11	chr6:144287000-144294800	Weak transcription	Spleen	Spleen
12	chr6:144287000-144298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:144287400-144294600	Enhancers	Adipose Nuclei	Adipose
14	chr6:144287600-144297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:144288400-144314800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:144289000-144295000	Enhancers	Fetal Lung	lung
17	chr6:144289000-144301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:144289400-144294200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:144290000-144294400	Weak transcription	Small Intestine	intestine
20	chr6:144290000-144296200	Weak transcription	NHLF	lung
21	chr6:144290200-144296000	Enhancers	Fetal Kidney	kidney
22	chr6:144290400-144294400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:144290600-144294400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:144291000-144294200	Weak transcription	Placenta	Placenta
25	chr6:144291000-144295000	Enhancers	Fetal Stomach	stomach
26	chr6:144291200-144294000	Weak transcription	Fetal Heart	heart
27	chr6:144291200-144294400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr6:144291200-144294600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:144291600-144294000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr6:144291800-144294000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr6:144292400-144294600	Weak transcription	Ovary	ovary
32	chr6:144292400-144301200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:144292600-144298000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144292800-144294400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr6:144292800-144294400	Weak transcription	HSMMtube	muscle
36	chr6:144292800-144295000	Enhancers	Fetal Muscle Leg	muscle
37	chr6:144293000-144294400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:144293000-144294400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:144293000-144295200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:144293200-144294800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:144293200-144295000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:144293200-144295600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:144293400-144294800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:144293400-144295000	Enhancers	Fetal Intestine Small	intestine
45	chr6:144293400-144295400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:144293600-144294000	Weak transcription	K562	blood
47	chr6:144293600-144294000	Weak transcription	NHDF-Ad	bronchial
48	chr6:144293600-144294200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:144293600-144295000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:144293600-144309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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