Variant report

Variant	rs10930859
Chromosome Location	chr2:180125760-180125761
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180116382..180118315-chr2:180123410..180126262,2	MCF-7	breast:
2	chr2:180115892..180117617-chr2:180123291..180126152,2	K562	blood:
3	chr2:180114550..180116150-chr2:180123274..180125911,2	MCF-7	breast:
4	chr2:180118975..180121494-chr2:180124484..180126493,2	K562	blood:
5	chr2:180115733..180117570-chr2:180124952..180126888,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10177122	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10177402	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10181291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10181464	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10182477	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10185803	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10194420	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10194534	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204985	0.97[EUR][1000 genomes]
rs10209183	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209887	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1159257	0.92[ASN][1000 genomes]
rs12105846	0.97[EUR][1000 genomes]
rs12617002	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12621023	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621115	0.80[AMR][1000 genomes]
rs12622075	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12623243	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12693179	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12693181	0.89[EUR][1000 genomes]
rs12693183	0.84[EUR][1000 genomes]
rs13020645	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13382185	0.85[EUR][1000 genomes]
rs13384403	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13392996	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13396340	0.85[EUR][1000 genomes]
rs13414296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13417919	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2007593	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28838656	0.85[EUR][1000 genomes]
rs57098667	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433770	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67043078	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6731614	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6759983	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7569887	0.80[AMR][1000 genomes]
rs7601366	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9288025	0.87[ASN][1000 genomes]
rs9288026	0.85[AMR][1000 genomes];0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10930859	SESTD1	Cis_1M	lymphoblastoid	RTeQTL
rs10930859	SESTD1	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
2	chr2:180102800-180127800	Weak transcription	Psoas Muscle	Psoas
3	chr2:180112400-180126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:180112600-180126800	Weak transcription	Hela-S3	cervix
5	chr2:180115400-180127600	Weak transcription	NHLF	lung
6	chr2:180117400-180126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:180117800-180126400	Weak transcription	Small Intestine	intestine
8	chr2:180118600-180126200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:180118800-180127600	Weak transcription	HSMM	muscle
10	chr2:180118800-180128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:180119400-180128200	Weak transcription	Pancreas	Pancrea
12	chr2:180119600-180126200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:180120000-180127400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:180120200-180127200	Weak transcription	Fetal Kidney	kidney
15	chr2:180120200-180127600	Weak transcription	Fetal Stomach	stomach
16	chr2:180120400-180126800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:180122600-180127400	Enhancers	Adipose Nuclei	Adipose
18	chr2:180123600-180126400	Weak transcription	Fetal Brain Male	brain
19	chr2:180123600-180126800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:180123800-180125800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:180123800-180127600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:180123800-180127800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:180123800-180127800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:180123800-180128000	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:180124000-180127400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:180124200-180126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:180124200-180126400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:180124200-180126400	Enhancers	NHEK	skin
29	chr2:180124400-180126000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:180124400-180126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:180124400-180127000	Enhancers	HMEC	breast
32	chr2:180124400-180127600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:180124600-180127200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:180124800-180127400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:180125000-180126000	Enhancers	GM12878-XiMat	blood
36	chr2:180125000-180126400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:180125200-180126200	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:180125200-180126600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:180125200-180126800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:180125200-180127000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:180125200-180127000	Flanking Active TSS	HepG2	liver
42	chr2:180125400-180126000	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:180125400-180126400	Weak transcription	Fetal Brain Female	brain
44	chr2:180125400-180127600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:180125400-180127600	Weak transcription	Aorta	Aorta
46	chr2:180125400-180127600	Weak transcription	Right Atrium	heart
47	chr2:180125400-180128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:180125400-180128200	Weak transcription	Left Ventricle	heart
49	chr2:180125400-180128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:180125600-180126400	Weak transcription	Muscle Satellite Cultured Cells	--

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