Variant report

Variant	rs7100576
Chromosome Location	chr10:5784649-5784650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5782892..5785876-chr10:5786792..5789358,3	K562	blood:
2	chr10:5727747..5730181-chr10:5782433..5784785,2	K562	blood:
3	chr10:5771904..5773618-chr10:5783797..5785914,2	K562	blood:

Variant related genes	Relation type
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10737012	0.89[EUR][1000 genomes]
rs10737013	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10737019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737021	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10752069	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10752110	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10752111	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10795347	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10795485	0.87[EUR][1000 genomes]
rs10795488	0.86[EUR][1000 genomes]
rs10795510	0.89[EUR][1000 genomes]
rs10795515	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10795520	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10795541	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10795547	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10905065	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10905137	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11255085	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11255228	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12571639	0.88[EUR][1000 genomes]
rs1317420	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1567706	0.80[EUR][1000 genomes]
rs1567707	0.80[EUR][1000 genomes]
rs1858447	0.82[EUR][1000 genomes]
rs1967487	0.82[EUR][1000 genomes]
rs2244755	0.87[EUR][1000 genomes]
rs2246399	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2380199	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2380202	0.81[EUR][1000 genomes]
rs2380203	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2386623	0.85[ASN][1000 genomes]
rs2386624	0.85[ASN][1000 genomes]
rs2497	0.84[EUR][1000 genomes]
rs2797488	0.90[EUR][1000 genomes]
rs2890365	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2892078	0.83[EUR][1000 genomes]
rs3736462	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4748913	0.81[EUR][1000 genomes]
rs60840965	0.81[EUR][1000 genomes]
rs6602240	0.81[EUR][1000 genomes]
rs6602259	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7071811	0.81[EUR][1000 genomes]
rs7078711	0.89[EUR][1000 genomes]
rs7089100	0.81[EUR][1000 genomes]
rs7096742	0.88[EUR][1000 genomes]
rs7896749	0.82[EUR][1000 genomes]
rs7906719	0.81[EUR][1000 genomes]
rs7909733	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7909988	0.88[EUR][1000 genomes]
rs7913067	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7916827	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9423726	0.88[EUR][1000 genomes]
rs9423930	0.85[EUR][1000 genomes]
rs9423936	0.87[ASN][1000 genomes]
rs9423948	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9424221	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1050663	chr10:5737979-5785918	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3420474	chr10:5784362-5784820	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7100576	GDI2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5753800-5787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:5762400-5794600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:5762600-5843400	Strong transcription	Dnd41	blood
5	chr10:5762800-5793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:5763400-5788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:5767200-5792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:5768000-5788400	Weak transcription	Fetal Brain Male	brain
11	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:5768600-5786400	Strong transcription	GM12878-XiMat	blood
13	chr10:5771800-5790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:5773000-5788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:5773600-5786000	Weak transcription	Right Ventricle	heart
16	chr10:5773800-5785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:5773800-5788200	Weak transcription	Fetal Kidney	kidney
18	chr10:5774000-5788200	Weak transcription	Gastric	stomach
19	chr10:5774200-5786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:5774400-5785200	Weak transcription	NHLF	lung
21	chr10:5774400-5788200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:5774400-5788200	Weak transcription	Pancreas	Pancrea
23	chr10:5774400-5788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:5774800-5788200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:5775000-5785600	Weak transcription	Fetal Heart	heart
26	chr10:5775200-5794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:5775400-5786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
29	chr10:5779000-5804600	Strong transcription	A549	lung
30	chr10:5779200-5786200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
33	chr10:5779600-5788200	Weak transcription	Fetal Intestine Small	intestine
34	chr10:5779600-5793800	Strong transcription	HSMM	muscle
35	chr10:5779800-5789800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:5780400-5785200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:5780400-5786400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:5780400-5786400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr10:5780400-5788600	Strong transcription	Primary T cells from cord blood	blood
40	chr10:5780400-5790000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:5780400-5791400	Strong transcription	Liver	Liver
42	chr10:5780400-5791400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:5780600-5792000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:5780600-5793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:5780800-5792200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:5781000-5785400	Strong transcription	NHEK	skin
47	chr10:5781000-5786400	Strong transcription	NH-A	brain
48	chr10:5781200-5789800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:5781200-5791400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:5781400-5790800	Strong transcription	HSMMtube	muscle

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