Variant report

Variant	rs2758145
Chromosome Location	chr6:134481965-134481966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134480210..134482373-chr6:134495291..134497320,2	K562	blood:
2	chr6:134477847..134480487-chr6:134481684..134484285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118515	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1540939	0.85[ASN][1000 genomes]
rs1540940	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1540941	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1623002	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1743931	0.81[ASN][1000 genomes]
rs1743932	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1743933	0.85[EUR][1000 genomes]
rs1743935	0.87[EUR][1000 genomes]
rs1763514	0.87[EUR][1000 genomes]
rs1763517	0.85[EUR][1000 genomes]
rs1763518	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2181171	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2758148	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[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	nsv492292	chr6:134464255-135028540	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026369	chr6:134468470-135122264	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv538444	chr6:134468470-135122264	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv348798	chr6:134475504-134485232	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2758145	ALDH8A1	cis	parietal	SCAN
rs2758145	TAAR5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134476800-134495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:134480200-134487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:134480200-134495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:134480800-134482200	Weak transcription	Fetal Kidney	kidney
5	chr6:134481200-134482200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:134481400-134482000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:134481400-134482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:134481400-134482800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:134481400-134482800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:134481400-134483000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:134481400-134483000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:134481400-134483200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:134481400-134484800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:134481600-134482000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:134481600-134482000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:134481600-134482200	Enhancers	NHDF-Ad	bronchial
17	chr6:134481600-134483000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:134481600-134483000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:134481600-134483000	Enhancers	Fetal Intestine Large	intestine
20	chr6:134481800-134482000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:134481800-134482000	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:134481800-134482000	Enhancers	Hela-S3	cervix
23	chr6:134481800-134482200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:134481800-134482600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:134481800-134482600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:134481800-134482800	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:134481800-134483000	Enhancers	HMEC	breast

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