Variant report

Variant	rs8020134
Chromosome Location	chr14:73029707-73029708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:73029014..73031755-chr14:73034967..73036841,2	K562	blood:
2	chr14:73027080..73029915-chr14:73030581..73032149,2	MCF-7	breast:
3	chr14:73023153..73024787-chr14:73028101..73030351,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12434785	0.86[AMR][1000 genomes]
rs2239228	0.94[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv518320	chr14:73023436-73032103	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1047057	chr14:73024744-73221375	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3530222	chr14:73028291-73030197	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3530221	chr14:73028366-73030129	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3530223	chr14:73028366-73030129	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8020134	SLC10A1	cis	parietal	SCAN
rs8020134	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
2	chr14:73026200-73030200	Weak transcription	Primary B cells from cord blood	blood
3	chr14:73026400-73034400	Weak transcription	Fetal Brain Male	brain
4	chr14:73026600-73031200	Weak transcription	Right Ventricle	heart
5	chr14:73026800-73031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:73026800-73031200	Weak transcription	Psoas Muscle	Psoas
7	chr14:73026800-73031800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:73027000-73030000	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:73027000-73039800	Weak transcription	Fetal Brain Female	brain
10	chr14:73027200-73030000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:73027200-73030200	Weak transcription	Left Ventricle	heart
12	chr14:73027200-73031200	Weak transcription	Right Atrium	heart
13	chr14:73027200-73031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:73027200-73033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:73027400-73030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:73027400-73031600	Weak transcription	HSMMtube	muscle
17	chr14:73027400-73031800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:73027400-73032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:73027800-73031200	Weak transcription	HSMM	muscle
20	chr14:73028000-73031400	Weak transcription	Fetal Heart	heart
21	chr14:73029200-73031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:73029400-73031600	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:73029600-73030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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