Variant report

Variant	rs10228964
Chromosome Location	chr7:66451360-66451361
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66449461..66454980-chr7:66457220..66462076,6	K562	blood:

Variant related genes	Relation type
ENSG00000198874	Chromatin interaction
ENSG00000126524	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10156059	0.81[ASN][1000 genomes]
rs10247815	0.80[ASN][1000 genomes]
rs10264433	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264555	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266792	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10280816	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13437994	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17680708	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17748115	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17748222	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28472679	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28501161	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28641990	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28675035	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28817095	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3800818	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59693594	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6965680	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6971508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71526586	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73143921	0.81[ASN][1000 genomes]
rs73145911	0.83[ASN][1000 genomes]
rs73145924	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73151646	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73151663	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73151665	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7809359	0.83[ASN][1000 genomes]
rs7809535	0.83[ASN][1000 genomes]
rs868960	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv966836	chr7:66438146-66457576	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10228964	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
4	chr7:66444800-66456800	Weak transcription	Stomach Mucosa	stomach
5	chr7:66445800-66451600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:66445800-66452800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:66446000-66453200	Weak transcription	GM12878-XiMat	blood
8	chr7:66446200-66451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:66446200-66453600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:66446600-66459400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66447000-66453000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66448400-66452200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:66448800-66452000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:66448800-66452000	Weak transcription	Adipose Nuclei	Adipose
15	chr7:66449400-66451600	Weak transcription	Fetal Thymus	thymus
16	chr7:66449400-66451600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:66449400-66451800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:66449400-66452200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:66449400-66453200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:66449400-66459200	Weak transcription	HepG2	liver
21	chr7:66449600-66451600	Weak transcription	HSMM	muscle
22	chr7:66449600-66451800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:66449600-66451800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:66449600-66451800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:66449600-66452000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:66449600-66452000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:66449600-66452200	Weak transcription	Brain Anterior Caudate	brain
28	chr7:66449600-66453000	Weak transcription	HSMMtube	muscle
29	chr7:66449600-66459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:66449800-66451800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:66449800-66451800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:66449800-66452200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:66449800-66453200	Weak transcription	Lung	lung
34	chr7:66449800-66453200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:66449800-66453600	Weak transcription	Fetal Stomach	stomach
36	chr7:66450000-66451600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:66450000-66452000	Weak transcription	Liver	Liver
38	chr7:66450000-66452200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:66450000-66452400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:66450200-66452200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:66450200-66452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:66450200-66452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:66450200-66452200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:66450200-66452200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:66450200-66452400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:66450200-66453200	Weak transcription	Fetal Brain Female	brain
47	chr7:66450200-66453200	Weak transcription	Placenta	Placenta
48	chr7:66450200-66453200	Weak transcription	Ovary	ovary
49	chr7:66450200-66453200	Weak transcription	Pancreas	Pancrea
50	chr7:66450200-66453400	Weak transcription	Brain Inferior Temporal Lobe	brain

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