Variant report

Variant	rs10947114
Chromosome Location	chr6:30902181-30902182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30900647..30902289-chr6:30902936..30905362,2	MCF-7	breast:
2	chr6:30692214..30695086-chr6:30900554..30903279,2	K562	blood:
3	chr6:30891663..30894580-chr6:30900735..30902793,2	MCF-7	breast:
4	chr6:30901740..30904326-chr6:30904542..30906468,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10947113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12697941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074511	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2239518	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2240803	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267641	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285319	0.86[EUR][1000 genomes]
rs2286655	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2286656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2524236	0.86[EUR][1000 genomes]
rs3213644	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3916232	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711247	0.86[EUR][1000 genomes]
rs4711249	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713402	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9295928	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295930	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295933	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9366761	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9368646	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9394021	0.86[EUR][1000 genomes]
rs9461639	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9468843	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9468847	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9468850	0.81[AMR][1000 genomes]
rs9501030	0.87[EUR][1000 genomes]
rs9501035	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9501340	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9501491	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10947114	VARS2	cis	lymphoblastoid	seeQTL
rs10947114	HIST1H2AM	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30894800-30902600	Weak transcription	NHEK	skin
2	chr6:30894800-30903000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:30894800-30905000	Weak transcription	Right Ventricle	heart
4	chr6:30896000-30904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:30896600-30905800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:30897000-30904000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30897000-30905600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:30897000-30905800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:30897000-30909800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:30897200-30905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:30897400-30903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:30898200-30902200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:30899200-30903400	Enhancers	Fetal Intestine Large	intestine
14	chr6:30899200-30904200	Enhancers	Fetal Intestine Small	intestine
15	chr6:30899400-30904600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:30900200-30902200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:30900200-30902200	Weak transcription	HMEC	breast
18	chr6:30900200-30904000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:30900200-30904000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:30900200-30906800	Enhancers	Stomach Mucosa	stomach
21	chr6:30900600-30902600	Enhancers	Lung	lung
22	chr6:30900800-30902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:30900800-30902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:30900800-30902800	Weak transcription	Small Intestine	intestine
25	chr6:30901000-30902800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:30901000-30905000	Weak transcription	Esophagus	oesophagus
27	chr6:30902000-30906200	Weak transcription	Pancreas	Pancrea

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