Variant report

Variant	rs28817095
Chromosome Location	chr7:66429415-66429416
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	chr7:66421917..66425693-chr7:66427174..66429869,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10156059	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10224189	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10226191	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10228964	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10234640	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10241395	0.81[AMR][1000 genomes]
rs10244459	0.81[AMR][1000 genomes]
rs10245017	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10247815	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10250124	0.82[EUR][1000 genomes]
rs10264433	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10264555	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10266792	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280816	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13437994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17680708	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17747927	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17748115	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17748222	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2013707	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28379824	0.81[AMR][1000 genomes]
rs28472679	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28501161	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28634091	0.81[AMR][1000 genomes]
rs28641990	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28675035	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800814	0.81[AMR][1000 genomes]
rs3800818	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57774708	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57875851	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59693594	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60026498	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6965680	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971508	0.84[AMR][1000 genomes]
rs71526586	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73139976	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73141980	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73143921	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73145911	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73145924	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73151646	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73151663	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73151665	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7785883	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809359	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809535	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868960	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs28817095	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs28817095	GS1-124K5.12	cis	Artery Tibial	GTEx
rs28817095	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs28817095	GS1-124K5.12	cis	lung	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:66422600-66430400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:66423400-66435400	Weak transcription	Colonic Mucosa	Colon
5	chr7:66423600-66429600	Weak transcription	HUVEC	blood vessel
6	chr7:66424000-66434400	Weak transcription	Stomach Mucosa	stomach
7	chr7:66424200-66429600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:66424200-66429600	Weak transcription	Fetal Lung	lung
9	chr7:66424200-66429800	Weak transcription	NH-A	brain
10	chr7:66424200-66432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:66424400-66429600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:66424400-66439600	Weak transcription	K562	blood
13	chr7:66424600-66429800	Weak transcription	NHEK	skin
14	chr7:66424600-66430000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:66424800-66429800	Weak transcription	GM12878-XiMat	blood
16	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:66425000-66430000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:66425000-66433600	Weak transcription	HSMMtube	muscle
19	chr7:66425200-66429600	Weak transcription	HSMM	muscle
20	chr7:66425200-66429800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:66425800-66429600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:66425800-66429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:66425800-66429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:66425800-66430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:66425800-66432200	Weak transcription	Pancreas	Pancrea
26	chr7:66425800-66435400	Weak transcription	Gastric	stomach
27	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
29	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:66426000-66429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:66426000-66434400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:66426400-66430000	Weak transcription	Fetal Thymus	thymus
33	chr7:66426400-66430600	Weak transcription	Esophagus	oesophagus
34	chr7:66426400-66435200	Weak transcription	A549	lung
35	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:66426600-66429600	Weak transcription	Fetal Stomach	stomach
37	chr7:66426600-66429600	Weak transcription	Spleen	Spleen
38	chr7:66426600-66432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:66426800-66429600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:66427000-66429600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:66427000-66435200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:66427200-66438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:66428200-66435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:66428200-66435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:66428200-66438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:66429400-66429600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:66429400-66429800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:66429400-66429800	Enhancers	Fetal Muscle Leg	muscle
50	chr7:66429400-66430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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