Variant report

Variant	rs6742739
Chromosome Location	chr2:180131356-180131357
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	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:
2	chr2:180129872..180132234-chr2:180132866..180134594,2	K562	blood:

Variant related genes	Relation type
ENSG00000237477	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10170520	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10174774	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10186198	0.82[EUR][1000 genomes]
rs10204985	0.83[AFR][1000 genomes]
rs10205999	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10439299	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930858	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1158872	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11884516	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898291	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12105846	0.83[AFR][1000 genomes]
rs12997314	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13026497	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13383965	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13391602	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13418701	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1907421	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289992	0.81[EUR][1000 genomes]
rs4585064	0.82[EUR][1000 genomes]
rs6433757	0.81[EUR][1000 genomes]
rs6433760	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433761	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433764	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433769	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707081	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734121	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736098	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6756326	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562730	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7579536	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585600	0.82[EUR][1000 genomes]
rs7608882	0.81[EUR][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	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6742739	SESTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180129800-180132000	Enhancers	Fetal Heart	heart
2	chr2:180130000-180132600	Weak transcription	Placenta	Placenta
3	chr2:180130000-180132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:180130000-180133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:180130000-180135200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:180130000-180137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:180130000-180138000	Weak transcription	Gastric	stomach
8	chr2:180130000-180138200	Weak transcription	Aorta	Aorta
9	chr2:180130000-180141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:180130000-180141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:180130200-180131800	Enhancers	HepG2	liver
12	chr2:180130200-180132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:180130200-180132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:180130200-180133000	Weak transcription	A549	lung
18	chr2:180130200-180133000	Weak transcription	NHDF-Ad	bronchial
19	chr2:180130200-180133200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:180130200-180136200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:180130200-180137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:180130200-180137200	Weak transcription	NH-A	brain
23	chr2:180130400-180132600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:180130400-180132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:180130400-180132600	Weak transcription	GM12878-XiMat	blood
26	chr2:180130400-180132600	Weak transcription	NHEK	skin
27	chr2:180130400-180132800	Weak transcription	HMEC	breast
28	chr2:180130400-180132800	Weak transcription	HUVEC	blood vessel
29	chr2:180130400-180133000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:180130400-180133200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:180130400-180136000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:180130400-180137400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:180130400-180138400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:180130400-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:180130600-180132600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:180130600-180132800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:180130600-180133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:180130600-180138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:180130800-180132600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:180130800-180132600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:180130800-180132800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:180130800-180132800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:180130800-180132800	Weak transcription	Osteobl	bone
44	chr2:180130800-180133000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:180130800-180133200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:180130800-180135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:180131000-180132200	Weak transcription	Hela-S3	cervix
48	chr2:180131000-180132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:180131000-180132800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:180131000-180133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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