Variant report

Variant	rs2749698
Chromosome Location	chr1:226162250-226162251
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226162239..226166134-chr1:226308775..226311257,3	K562	blood:
2	chr1:226094730..226096408-chr1:226161772..226163850,2	K562	blood:
3	chr1:226038787..226041210-chr1:226162125..226164130,2	K562	blood:
4	chr1:226155312..226157512-chr1:226161102..226163896,3	K562	blood:
5	chr1:224548342..224549997-chr1:226160381..226162583,2	K562	blood:
6	chr1:225964770..225967483-chr1:226161831..226164042,4	K562	blood:
7	chr1:226159521..226162180-chr1:226162227..226164425,2	K562	blood:
8	chr1:226162204..226165868-chr1:226249705..226252977,5	K562	blood:
9	chr1:226066286..226068064-chr1:226160996..226163119,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10915916	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2180421	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2475152	0.85[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2816329	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2816330	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4653701	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653702	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6426091	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6426092	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657197	0.87[EUR][1000 genomes]
rs6664468	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690247	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2749698	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226156400-226165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226156800-226167200	Weak transcription	HepG2	liver
4	chr1:226156800-226167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226157000-226165000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:226157000-226167200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226157000-226167400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226157800-226165200	Weak transcription	Spleen	Spleen
9	chr1:226158800-226165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:226160000-226164600	Weak transcription	Thymus	Thymus
11	chr1:226160800-226163600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:226161000-226165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:226161000-226165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:226161200-226163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:226161200-226164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226161200-226165400	Weak transcription	K562	blood
17	chr1:226161200-226167200	Weak transcription	Fetal Kidney	kidney
18	chr1:226161200-226167200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:226161400-226163600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:226161600-226163400	Weak transcription	Placenta	Placenta
21	chr1:226162200-226162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:226162200-226162400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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