Variant report

Variant	rs56313614
Chromosome Location	chr18:44788376-44788377
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44779645..44782742-chr18:44785627..44788634,4	MCF-7	breast:
2	chr18:44624367..44626651-chr18:44785801..44788433,2	K562	blood:
3	chr18:44623688..44626651-chr18:44786266..44788433,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16950348	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16950349	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668765	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668766	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668769	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668773	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668774	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2668775	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2684815	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684816	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684827	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684828	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684829	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684844	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684848	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684849	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684850	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2684854	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684855	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684856	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56313614	HDHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44786400-44789200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:44787000-44791000	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr18:44787200-44788400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr18:44787200-44788600	Bivalent Enhancer	Fetal Brain Female	brain
5	chr18:44787200-44790600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr18:44787200-44791000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:44787400-44789800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:44787400-44791000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr18:44787600-44789400	Bivalent Enhancer	Brain Anterior Caudate	brain
10	chr18:44788000-44788400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr18:44788000-44788400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr18:44788000-44788600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr18:44788000-44788600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr18:44788000-44791000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr18:44788200-44788400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr18:44788200-44788600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr18:44788200-44788800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:44788200-44789000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:44788200-44789200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:44788200-44789600	Bivalent Enhancer	Brain Substantia Nigra	brain
21	chr18:44788200-44790800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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