Variant report

Variant	rs10803924
Chromosome Location	chr2:179978688-179978689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10084229	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs10164707	0.89[JPT][hapmap]
rs10164814	0.86[JPT][hapmap]
rs10166788	1.00[CHB][hapmap]
rs10181464	0.89[JPT][hapmap]
rs10188759	0.89[JPT][hapmap]
rs10205477	0.93[EUR][1000 genomes]
rs10208593	0.88[JPT][hapmap]
rs10439300	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10930855	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs10930857	0.85[JPT][hapmap]
rs12621115	0.89[JPT][hapmap]
rs12693175	0.88[JPT][hapmap]
rs12693179	0.89[JPT][hapmap]
rs12987285	0.89[JPT][hapmap]
rs13029576	0.86[JPT][hapmap]
rs13382185	0.89[JPT][hapmap]
rs13396334	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs13404037	0.88[JPT][hapmap]
rs17363260	0.88[JPT][hapmap]
rs1900338	0.96[EUR][1000 genomes]
rs2289993	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs2289994	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs28763731	0.89[EUR][1000 genomes]
rs340320	1.00[JPT][hapmap]
rs340332	1.00[JPT][hapmap]
rs340334	1.00[JPT][hapmap]
rs34728717	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601366	0.88[JPT][hapmap]

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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10803924	SESTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179967800-179980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:179967800-179982400	Weak transcription	Fetal Brain Male	brain
3	chr2:179967800-180004400	Weak transcription	Esophagus	oesophagus
4	chr2:179969400-179980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:179970000-180004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:179970200-179991000	Weak transcription	Psoas Muscle	Psoas
7	chr2:179970800-179985800	Strong transcription	Primary B cells from cord blood	blood
8	chr2:179970800-179987000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:179971400-179979200	Weak transcription	Ovary	ovary
10	chr2:179971600-179979400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:179971600-179991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:179971600-180012600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:179972000-180005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:179972000-180005200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:179972200-179982400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179972400-179979800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:179972400-179982200	Strong transcription	Liver	Liver
18	chr2:179972400-179985400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:179972400-179986800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:179972400-179987400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:179972600-179979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:179972600-179979800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:179972600-179985200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:179972600-179985200	Weak transcription	Fetal Heart	heart
25	chr2:179972600-180001800	Weak transcription	NHEK	skin
26	chr2:179972800-179979400	Weak transcription	Thymus	Thymus
27	chr2:179972800-179989800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:179972800-180014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:179973000-179982400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:179973000-179982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:179973000-179985800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:179973000-179989200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:179973000-180007200	Weak transcription	GM12878-XiMat	blood
34	chr2:179973200-179979200	Weak transcription	Hela-S3	cervix
35	chr2:179973200-179979800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:179973200-179980800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:179973200-179982200	Weak transcription	Colonic Mucosa	Colon
38	chr2:179973200-179982200	Weak transcription	Stomach Mucosa	stomach
39	chr2:179973200-179986800	Strong transcription	Adipose Nuclei	Adipose
40	chr2:179973200-179987000	Weak transcription	Right Ventricle	heart
41	chr2:179973200-179987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:179973200-179988400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:179973200-179988800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:179973200-179989200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:179973200-179989400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:179973400-179981800	Strong transcription	Osteobl	bone
47	chr2:179973400-179982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:179973400-179982800	Weak transcription	A549	lung
49	chr2:179973400-179990000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:179973400-180004400	Weak transcription	Pancreas	Pancrea

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