Variant report

Variant	rs6710418
Chromosome Location	chr2:39086426-39086427
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:39086317-39086496	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:39086298-39086578	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:38977620..38979260-chr2:39085026..39086818,2	K562	blood:
2	chr2:38976661..38978798-chr2:39083252..39086476,5	MCF-7	breast:
3	chr2:38977475..38979317-chr2:39084775..39086818,3	K562	blood:

Variant related genes	Relation type
DHX57	TF binding region
ENSG00000225284	TF binding region
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1010858	0.89[AFR][1000 genomes]
rs11124651	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11675110	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12373604	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12465365	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12623330	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12712626	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712627	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12712628	0.89[AFR][1000 genomes]
rs13029388	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17494315	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1901289	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3100000	0.97[EUR][1000 genomes]
rs3112159	0.85[EUR][1000 genomes]
rs3112163	0.96[EUR][1000 genomes]
rs3112166	0.80[EUR][1000 genomes]
rs4133043	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265996	0.87[AMR][1000 genomes]
rs4641916	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670266	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6706091	0.80[AFR][1000 genomes]
rs6732083	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6734584	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6738403	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6741088	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744514	0.88[AFR][1000 genomes]
rs7586929	0.83[AMR][1000 genomes]
rs7598922	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9808136	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv2692	chr2:39065768-39111871	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6710418	DHX57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
2	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:39038800-39102200	Weak transcription	Gastric	stomach
4	chr2:39039000-39090000	Weak transcription	Esophagus	oesophagus
5	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
7	chr2:39050400-39088000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:39058000-39087800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:39063600-39088400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:39067200-39090200	Weak transcription	Stomach Mucosa	stomach
11	chr2:39068400-39090600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:39072200-39095400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:39072400-39089200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:39072600-39090800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:39073000-39091200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:39073600-39090200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:39075200-39090800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:39076000-39090600	Strong transcription	Brain Germinal Matrix	brain
19	chr2:39076200-39090600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:39076400-39090800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:39076600-39090800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:39078000-39090800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:39078200-39091200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:39078400-39090600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:39078800-39090600	Strong transcription	Osteobl	bone
26	chr2:39079400-39090800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:39079600-39090400	Strong transcription	Fetal Thymus	thymus
28	chr2:39079600-39090800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:39079600-39090800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:39079600-39090800	Strong transcription	Fetal Brain Female	brain
31	chr2:39079800-39086600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:39079800-39086600	Strong transcription	Liver	Liver
33	chr2:39079800-39089600	Strong transcription	Fetal Stomach	stomach
34	chr2:39079800-39090600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:39079800-39090600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:39079800-39090600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:39079800-39090600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:39079800-39090600	Strong transcription	Brain Anterior Caudate	brain
39	chr2:39079800-39090600	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:39079800-39090600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:39079800-39090800	Strong transcription	Adipose Nuclei	Adipose
42	chr2:39079800-39091000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:39079800-39091000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:39079800-39091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:39080000-39086600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:39080000-39086600	Strong transcription	HSMMtube	muscle
47	chr2:39080000-39086800	Strong transcription	NH-A	brain
48	chr2:39080000-39090800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:39080000-39090800	Strong transcription	Brain Hippocampus Middle	brain
50	chr2:39080000-39090800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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