Variant report

Variant	rs2380203
Chromosome Location	chr10:5810897-5810898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5809558..5811083-chr10:5837217..5839027,2	MCF-7	breast:
2	chr10:5810148..5812616-chr10:5855203..5857512,4	K562	blood:
3	chr10:5809711..5811648-chr10:5855446..5857250,2	K562	blood:
4	chr10:5488493..5490077-chr10:5808073..5811424,3	MCF-7	breast:
5	chr10:5805727..5811403-chr10:5852267..5856532,7	MCF-7	breast:
6	chr10:5804707..5806303-chr10:5808493..5811181,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10508296	0.83[ASN][1000 genomes]
rs10737013	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10737019	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10737021	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10752069	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752110	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10752111	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10795347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10795515	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10795520	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10795541	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10795547	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10905065	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10905137	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10905234	0.82[ASN][1000 genomes]
rs10905255	0.81[ASN][1000 genomes]
rs11255085	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11255228	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11598374	0.87[EUR][1000 genomes]
rs1317420	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1533215	0.81[ASN][1000 genomes]
rs1567706	0.87[CEU][hapmap]
rs1567707	0.88[CEU][hapmap]
rs1858447	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs1967487	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2175630	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2246399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2380199	0.82[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2380202	0.83[EUR][1000 genomes]
rs2386623	0.80[ASN][1000 genomes]
rs2386624	0.80[ASN][1000 genomes]
rs2497	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2797488	0.80[CEU][hapmap]
rs2890365	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2892078	0.81[EUR][1000 genomes]
rs3736462	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4237365	0.88[EUR][1000 genomes]
rs4748913	0.83[EUR][1000 genomes]
rs4748916	0.82[EUR][1000 genomes]
rs60840965	0.83[EUR][1000 genomes]
rs6602240	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs6602259	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6602278	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs7078711	0.80[CEU][hapmap]
rs7089100	0.88[CEU][hapmap]
rs7100576	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7896749	0.80[EUR][1000 genomes]
rs7906719	0.83[EUR][1000 genomes]
rs7909733	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7913067	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7916827	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9423936	0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9423948	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9424221	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2380203	GDI2	Cis_1M	lymphoblastoid	RTeQTL
rs2380203	GDI2	cis	uninvolved skin	skin_eQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
7	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
8	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr10:5795000-5817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:5796000-5822400	Strong transcription	Fetal Intestine Large	intestine
11	chr10:5797200-5819000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr10:5797400-5816600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr10:5797400-5816800	Strong transcription	Fetal Thymus	thymus
14	chr10:5797400-5847400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:5797600-5811800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr10:5797600-5812200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr10:5797600-5812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:5797600-5812400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr10:5797600-5814600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:5797600-5816200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:5797600-5817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:5797600-5817800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:5797600-5817800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:5797800-5811200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:5797800-5812000	Strong transcription	Primary T cells from cord blood	blood
26	chr10:5797800-5816400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:5798000-5812600	Strong transcription	HMEC	breast
28	chr10:5798000-5817000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:5798000-5817600	Strong transcription	Primary B cells from cord blood	blood
30	chr10:5798000-5818200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:5798000-5842800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:5798200-5815400	Strong transcription	NH-A	brain
33	chr10:5798200-5817000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr10:5798200-5843000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr10:5798400-5816600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:5798400-5817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:5798400-5817800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:5798600-5811400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:5798600-5811600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:5798600-5812200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:5798600-5812200	Strong transcription	HSMM	muscle
42	chr10:5798600-5812200	Strong transcription	K562	blood
43	chr10:5798600-5815200	Strong transcription	Adipose Nuclei	Adipose
44	chr10:5798600-5817000	Strong transcription	Placenta	Placenta
45	chr10:5798600-5817400	Strong transcription	Osteobl	bone
46	chr10:5798600-5817800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr10:5798600-5818400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr10:5798600-5820200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:5798600-5842800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:5798800-5812000	Strong transcription	NHDF-Ad	bronchial

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