Variant report

Variant	rs9386053
Chromosome Location	chr6:144297152-144297153
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	chr6:144295595..144299163-chr6:144326310..144330186,5	K562	blood:
2	chr6:144295595..144297684-chr6:144326310..144329598,3	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11155338	0.80[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2092894	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2224152	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2268448	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2328537	0.81[MEX][hapmap]
rs9321953	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs9321956	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373409	0.86[ASW][hapmap];0.93[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9376802	0.86[ASN][1000 genomes]
rs9376803	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9390147	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9390148	0.92[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9390150	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9399468	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9403540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403542	0.80[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9386053	C6orf94	cis	parietal	SCAN
rs9386053	PLAGL1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
3	chr6:144287000-144298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:144287600-144297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:144288400-144314800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:144289000-144301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:144292400-144301200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:144292600-144298000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:144293600-144309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:144294000-144297800	Enhancers	K562	blood
11	chr6:144294800-144297600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:144294800-144302600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:144294800-144312200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:144294800-144313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:144294800-144315600	Weak transcription	NHDF-Ad	bronchial
16	chr6:144295000-144297400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr6:144295000-144297600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr6:144295000-144298000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr6:144295000-144300000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:144295000-144304600	Weak transcription	Fetal Stomach	stomach
21	chr6:144295000-144312600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:144295200-144297600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr6:144295800-144297600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:144295800-144301400	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:144296000-144304200	Weak transcription	Fetal Kidney	kidney
26	chr6:144296200-144297400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr6:144296800-144297200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:144296800-144297200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:144296800-144297200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr6:144296800-144298000	Enhancers	Fetal Lung	lung
31	chr6:144297000-144297200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr6:144297000-144297200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:144297000-144297800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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