Variant report

Variant	rs2927340
Chromosome Location	chr1:226400759-226400760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226398585..226401075-chr1:226416599..226418723,2	K562	blood:
2	chr1:226399890..226402578-chr1:226510498..226513395,2	K562	blood:
3	chr1:226400590..226403167-chr1:226410027..226411871,2	K562	blood:
4	chr1:226395091..226397422-chr1:226399730..226402172,2	K562	blood:
5	chr1:226373215..226375431-chr1:226398887..226401624,3	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11807397	0.90[AFR][1000 genomes]
rs1219653	0.83[ASN][1000 genomes]
rs1219660	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1219663	0.97[LWK][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs1219668	0.93[AFR][1000 genomes]
rs1219674	0.83[YRI][hapmap];0.95[AFR][1000 genomes]
rs2615762	1.00[CHD][hapmap]
rs2927343	0.90[AFR][1000 genomes]
rs2927353	0.82[YRI][hapmap];0.95[AFR][1000 genomes]
rs2927354	0.95[AFR][1000 genomes]
rs3845507	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59720499	0.89[AFR][1000 genomes]
rs6605031	1.00[CHD][hapmap]
rs6678137	1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs9726248	0.96[AFR][1000 genomes]
rs9729999	0.93[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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2927340	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226394800-226402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:226399000-226411200	Weak transcription	Gastric	stomach
4	chr1:226399200-226400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:226399200-226402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:226399200-226403200	Weak transcription	K562	blood
7	chr1:226399400-226403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:226400000-226404400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:226400200-226401000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:226400200-226401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:226400200-226403400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226400400-226400800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:226400400-226401000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:226400400-226401000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:226400400-226401600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:226400600-226400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226400600-226401000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr1:226400600-226401000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:226400600-226401000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:226400600-226401000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:226400600-226401200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:226400600-226401200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:226400600-226402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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