Variant report

Variant	rs56692051
Chromosome Location	chr7:102533945-102533946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102522158..102525265-chr7:102531503..102535074,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10487281	1.00[ASN][1000 genomes]
rs10487284	1.00[ASN][1000 genomes]
rs11496066	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12113073	1.00[ASN][1000 genomes]
rs17135875	1.00[ASN][1000 genomes]
rs17135913	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135916	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17474893	1.00[ASN][1000 genomes]
rs2041094	1.00[ASN][1000 genomes]
rs2228687	0.87[EUR][1000 genomes]
rs2411061	0.88[EUR][1000 genomes]
rs3893651	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4377880	1.00[ASN][1000 genomes]
rs4398822	1.00[ASN][1000 genomes]
rs55681588	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781834	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849741	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55851590	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56314487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336567	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465886	0.84[EUR][1000 genomes]
rs66712128	0.87[EUR][1000 genomes]
rs6955064	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964296	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968036	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727175	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73192015	1.00[ASN][1000 genomes]
rs73192019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192025	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73192026	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73714541	0.87[EUR][1000 genomes]
rs7779854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781557	1.00[ASN][1000 genomes]
rs7798582	0.87[EUR][1000 genomes]
rs7809047	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
10	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56692051	LRRC17	cis	Stomach	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517000-102549600	Weak transcription	Gastric	stomach
2	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:102522600-102549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102528600-102534000	Enhancers	HUVEC	blood vessel
5	chr7:102529000-102535600	Weak transcription	Right Atrium	heart
6	chr7:102530200-102535000	Enhancers	HSMM	muscle
7	chr7:102530400-102534800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:102530400-102534800	Enhancers	Osteobl	bone
9	chr7:102530400-102535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:102530800-102534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:102530800-102534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:102530800-102535000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:102531000-102534800	Enhancers	NHEK	skin
14	chr7:102532400-102535600	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:102532400-102535800	Weak transcription	Ovary	ovary
16	chr7:102532400-102535800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:102532400-102538000	Weak transcription	Stomach Mucosa	stomach
18	chr7:102532400-102538800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:102532400-102538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:102532600-102534000	Enhancers	HSMMtube	muscle
21	chr7:102532600-102535400	Enhancers	NHDF-Ad	bronchial
22	chr7:102532600-102535600	Weak transcription	Aorta	Aorta
23	chr7:102532600-102535600	Weak transcription	Fetal Stomach	stomach
24	chr7:102532600-102535600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:102532600-102536000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:102533200-102534600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:102533200-102534800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:102533400-102534000	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:102533400-102534000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:102533400-102537800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:102533600-102534200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:102533600-102534400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:102533600-102535000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:102533600-102535600	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:102533600-102535600	Weak transcription	Fetal Lung	lung
36	chr7:102533600-102536800	Weak transcription	Fetal Kidney	kidney
37	chr7:102533600-102537200	Weak transcription	NHLF	lung
38	chr7:102533600-102537800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:102533600-102537800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:102533800-102534200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:102533800-102534600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr7:102533800-102535400	Weak transcription	K562	blood
43	chr7:102533800-102536000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:102533800-102537000	Weak transcription	NH-A	brain
45	chr7:102533800-102538000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:102533800-102538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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