Variant report

Variant	rs10128601
Chromosome Location	chr11:10122777-10122778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10734652	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10770080	0.82[AFR][1000 genomes]
rs10770082	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10770083	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10770084	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770085	0.81[AFR][1000 genomes]
rs10770087	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10770088	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770089	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770090	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840346	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840349	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840353	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840354	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840357	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840358	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840360	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840363	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840364	0.83[EUR][1000 genomes]
rs10840365	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840368	0.92[ASN][1000 genomes]
rs10840369	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042583	0.81[AMR][1000 genomes]
rs11042602	0.90[EUR][1000 genomes]
rs11042617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042620	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042621	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042622	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042633	0.86[ASN][1000 genomes]
rs11042638	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11600852	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12224149	0.85[ASN][1000 genomes]
rs12288355	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12360854	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2403230	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403259	0.81[AFR][1000 genomes]
rs2403264	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2403265	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2403290	0.91[EUR][1000 genomes]
rs4284389	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4316505	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4350354	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4366476	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4466825	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4509749	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4635071	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58623593	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6483883	0.85[AFR][1000 genomes]
rs6483964	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6483965	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6483966	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6483970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7102016	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7104821	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106328	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106491	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7107021	0.91[EUR][1000 genomes]
rs7110312	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7110664	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7111072	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7119000	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121704	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7122422	0.89[EUR][1000 genomes]
rs7125593	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126376	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7128591	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7128698	0.85[AFR][1000 genomes]
rs7129239	0.80[AFR][1000 genomes]
rs7131203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924499	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7932988	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7938891	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939146	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7947588	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7948166	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7950140	0.82[AFR][1000 genomes]
rs7950240	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9645625	0.88[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10128601	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10114000-10123200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:10116800-10125400	Weak transcription	Ovary	ovary
3	chr11:10116800-10131000	Weak transcription	Gastric	stomach
4	chr11:10117200-10131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:10118200-10125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:10118400-10123600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:10118800-10125600	Weak transcription	Pancreas	Pancrea
8	chr11:10119800-10125200	Weak transcription	Aorta	Aorta
9	chr11:10120000-10122800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:10120600-10123400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:10120600-10129200	Weak transcription	Psoas Muscle	Psoas
13	chr11:10120800-10123400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:10120800-10131000	Weak transcription	A549	lung
15	chr11:10121000-10129800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:10121200-10123600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:10121200-10130400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:10121400-10126000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:10121400-10131200	Weak transcription	Liver	Liver
20	chr11:10121800-10122800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:10121800-10122800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr11:10121800-10122800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:10121800-10122800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:10121800-10122800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr11:10121800-10123000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr11:10121800-10123000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:10121800-10123000	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr11:10121800-10123000	ZNF genes & repeats	Placenta	Placenta
29	chr11:10121800-10123200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr11:10122000-10122800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:10122000-10122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:10122000-10123000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:10122200-10123000	Enhancers	Colon Smooth Muscle	Colon
34	chr11:10122200-10123000	Enhancers	Small Intestine	intestine
35	chr11:10122200-10127200	Weak transcription	Right Atrium	heart
36	chr11:10122200-10129000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:10122200-10129000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:10122200-10130800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:10122200-10131000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
41	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:10122400-10122800	Weak transcription	NHDF-Ad	bronchial
43	chr11:10122400-10122800	Enhancers	NHLF	lung
44	chr11:10122400-10126000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:10122400-10126000	Weak transcription	Lung	lung
46	chr11:10122400-10127800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:10122400-10129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:10122400-10130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:10122400-10130800	Weak transcription	Fetal Lung	lung
50	chr11:10122400-10130800	Weak transcription	HSMM	muscle

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