Variant report

Variant	rs2170502
Chromosome Location	chr5:7911143-7911144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1078381	0.95[ASN][1000 genomes]
rs11951657	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163363	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183229	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1532268	0.88[ASN][1000 genomes]
rs17245337	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1802059	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2388771	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2892595	0.95[ASN][1000 genomes]
rs35400615	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815743	0.88[ASN][1000 genomes]
rs60014260	1.00[ASN][1000 genomes]
rs61161611	1.00[ASN][1000 genomes]
rs62342557	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66731631	1.00[ASN][1000 genomes]
rs67030816	0.90[ASN][1000 genomes]
rs67704418	0.93[ASN][1000 genomes]
rs716537	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7703296	1.00[ASN][1000 genomes]
rs7704200	1.00[ASN][1000 genomes]
rs7715062	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
5	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
9	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
10	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:7904400-7912400	Weak transcription	HMEC	breast
12	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:7904800-7915400	Weak transcription	Osteobl	bone
14	chr5:7905000-7912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:7906200-7916400	Weak transcription	NHEK	skin
16	chr5:7907000-7911400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:7908800-7915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:7909000-7911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:7909200-7911200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:7909200-7911800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:7909400-7911600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:7909400-7912200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:7909400-7912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:7909600-7911400	Weak transcription	Gastric	stomach
25	chr5:7909600-7911600	Weak transcription	Lung	lung
26	chr5:7909600-7911800	Weak transcription	Placenta	Placenta
27	chr5:7909600-7911800	Weak transcription	HSMM	muscle
28	chr5:7909600-7912000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:7909600-7912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:7909600-7912400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:7909600-7912600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:7909600-7912600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:7909600-7912800	Weak transcription	A549	lung
34	chr5:7909600-7913200	Weak transcription	Brain Angular Gyrus	brain
35	chr5:7909600-7915600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:7909600-7916400	Weak transcription	HSMMtube	muscle
37	chr5:7909800-7911200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:7909800-7911200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:7909800-7912000	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:7909800-7912200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:7909800-7912400	Weak transcription	Left Ventricle	heart
42	chr5:7909800-7912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:7909800-7912600	Weak transcription	Dnd41	blood
44	chr5:7909800-7917600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:7910000-7912200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:7910200-7911400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:7910400-7911200	Strong transcription	Brain Anterior Caudate	brain
48	chr5:7910600-7911200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:7910600-7911200	Enhancers	GM12878-XiMat	blood
50	chr5:7910600-7911400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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