Variant report

Variant	rs2060744
Chromosome Location	chr2:39101750-39101751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38976877..38979785-chr2:39100480..39105632,13	K562	blood:
2	chr2:38973415..38975366-chr2:39100938..39103537,2	K562	blood:
3	chr2:39092323..39097069-chr2:39100019..39103136,5	MCF-7	breast:
4	chr2:38976936..38979845-chr2:39101241..39105632,7	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2060743	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3923144	0.82[AMR][1000 genomes]
rs4670899	0.84[AFR][1000 genomes]
rs6706186	0.82[AMR][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
rs2060744	DHX57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39038800-39102200	Weak transcription	Gastric	stomach
2	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
3	chr2:39080000-39102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:39081200-39102200	Weak transcription	Right Ventricle	heart
5	chr2:39081200-39102200	Weak transcription	Spleen	Spleen
6	chr2:39081200-39102400	Weak transcription	Pancreas	Pancrea
7	chr2:39086400-39101800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:39088200-39102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:39089200-39101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:39089200-39101800	Weak transcription	Fetal Heart	heart
11	chr2:39089400-39102000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:39089400-39102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:39089400-39102200	Weak transcription	Ovary	ovary
14	chr2:39089400-39102200	Weak transcription	Small Intestine	intestine
15	chr2:39089600-39101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:39089600-39102000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:39089600-39102000	Weak transcription	NHLF	lung
18	chr2:39089600-39102400	Weak transcription	Lung	lung
19	chr2:39089800-39101800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:39090000-39102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:39090000-39102000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:39090200-39101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:39090200-39102400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:39090600-39101800	Weak transcription	HUVEC	blood vessel
25	chr2:39090600-39101800	Weak transcription	Osteobl	bone
26	chr2:39090600-39102000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:39090600-39102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:39090600-39102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:39090800-39102000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:39090800-39102000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:39090800-39102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:39090800-39102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:39090800-39102000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:39090800-39102000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:39090800-39102000	Weak transcription	HSMMtube	muscle
36	chr2:39090800-39102000	Weak transcription	NHDF-Ad	bronchial
37	chr2:39092000-39102200	Weak transcription	Right Atrium	heart
38	chr2:39092800-39102200	Weak transcription	Psoas Muscle	Psoas
39	chr2:39093800-39101800	Weak transcription	NH-A	brain
40	chr2:39094200-39101800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:39094200-39102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:39094200-39102400	Weak transcription	Aorta	Aorta
43	chr2:39094400-39102000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:39094400-39102000	Weak transcription	Liver	Liver
45	chr2:39094400-39102000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:39094400-39102000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:39094400-39102200	Weak transcription	HSMM	muscle
48	chr2:39094600-39101800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39094600-39101800	Weak transcription	Hela-S3	cervix
50	chr2:39094600-39102000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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