Variant report

Variant	rs10482682
Chromosome Location	chr5:142679397-142679398
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	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:
2	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10482633	1.00[ASW][hapmap];0.92[YRI][hapmap]
rs10482634	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10482642	1.00[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap]
rs10482655	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10482689	1.00[ASW][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs10515521	1.00[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap]
rs11740792	1.00[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap]
rs11745958	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11750172	0.83[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17209216	1.00[ASN][1000 genomes]
rs17209251	1.00[JPT][hapmap]
rs17209258	1.00[JPT][hapmap]
rs17287745	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17339455	0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17339831	1.00[ASW][hapmap];0.86[LWK][hapmap];0.92[YRI][hapmap]
rs17399352	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2013935	1.00[ASN][1000 genomes]
rs2398631	0.97[ASN][1000 genomes]
rs2963156	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs33383	0.85[GIH][hapmap]
rs33388	0.91[GIH][hapmap]
rs33944801	1.00[ASN][1000 genomes]
rs35501467	1.00[JPT][hapmap]
rs4128428	1.00[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap]
rs4912903	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912906	0.94[ASN][1000 genomes]
rs4912908	0.89[ASN][1000 genomes]
rs4986593	1.00[JPT][hapmap]
rs62375463	0.90[EUR][1000 genomes]
rs62375499	1.00[ASN][1000 genomes]
rs62375502	1.00[ASN][1000 genomes]
rs6877893	0.91[GIH][hapmap]
rs72801052	0.83[AFR][1000 genomes]
rs9324916	1.00[JPT][hapmap];0.97[ASN][1000 genomes]

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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv5041	chr5:142653189-142697896	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10482682	NR3C1	Cis_1M	lymphoblastoid	RTeQTL
rs10482682	LARS	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142655800-142699200	Strong transcription	Dnd41	blood
2	chr5:142657800-142695400	Weak transcription	Pancreas	Pancrea
3	chr5:142658200-142694800	Weak transcription	Right Ventricle	heart
4	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
5	chr5:142659800-142679400	Weak transcription	Small Intestine	intestine
6	chr5:142659800-142692600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:142664000-142684600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:142664000-142685000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:142664400-142681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:142664400-142693400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:142667200-142682000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:142667400-142688800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:142667800-142681200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:142668000-142680200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:142668200-142680200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:142668600-142680400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:142668600-142680800	Strong transcription	NHDF-Ad	bronchial
18	chr5:142668600-142688800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:142668800-142682400	Strong transcription	GM12878-XiMat	blood
20	chr5:142668800-142693800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:142669000-142680800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:142669200-142680200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:142669400-142680400	Strong transcription	Osteobl	bone
24	chr5:142669600-142682600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:142669800-142680200	Strong transcription	Primary T cells from cord blood	blood
26	chr5:142669800-142680200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:142669800-142680400	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:142669800-142680400	Strong transcription	Fetal Thymus	thymus
29	chr5:142669800-142680400	Strong transcription	Thymus	Thymus
30	chr5:142669800-142680600	Strong transcription	Adipose Nuclei	Adipose
31	chr5:142669800-142681200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:142670000-142680200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:142670000-142681800	Strong transcription	Primary B cells from cord blood	blood
34	chr5:142670000-142683600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:142670200-142680400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:142670200-142682200	Strong transcription	Liver	Liver
37	chr5:142670600-142680400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:142671000-142680200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:142671200-142680200	Strong transcription	Hela-S3	cervix
40	chr5:142671200-142686400	Weak transcription	Fetal Intestine Small	intestine
41	chr5:142671400-142680200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:142671400-142681200	Strong transcription	HSMM	muscle
43	chr5:142671400-142682200	Strong transcription	Placenta	Placenta
44	chr5:142671600-142680600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:142671600-142682200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:142672400-142679800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:142674000-142680400	Strong transcription	Fetal Intestine Large	intestine
48	chr5:142674200-142680400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:142674400-142688200	Weak transcription	Psoas Muscle	Psoas
50	chr5:142675200-142679600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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