Variant report

Variant	rs73299410
Chromosome Location	chr7:27914722-27914723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10250579	1.00[AMR][1000 genomes]
rs10251014	1.00[AMR][1000 genomes]
rs10259651	1.00[AMR][1000 genomes]
rs28751937	1.00[AMR][1000 genomes]
rs7795759	1.00[AMR][1000 genomes]
rs7799801	1.00[AMR][1000 genomes]
rs7800252	1.00[AMR][1000 genomes]
rs7800622	1.00[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27897200-27915200	Weak transcription	Gastric	stomach
2	chr7:27904000-27916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:27906600-27925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27907000-27930800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:27907600-27926000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:27908200-27932600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:27908600-27917400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:27909400-27916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:27909400-27923600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:27909400-27923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:27910200-27915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:27911000-27923600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:27911400-27914800	Enhancers	Adipose Nuclei	Adipose
17	chr7:27911400-27915200	Enhancers	Fetal Muscle Leg	muscle
18	chr7:27911600-27915000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:27911600-27915800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:27911800-27915000	Enhancers	Brain Substantia Nigra	brain
21	chr7:27911800-27915400	Enhancers	Brain Hippocampus Middle	brain
22	chr7:27911800-27915400	Enhancers	NHDF-Ad	bronchial
23	chr7:27912000-27915000	Enhancers	Liver	Liver
24	chr7:27912000-27915000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:27912400-27915000	Enhancers	Ovary	ovary
26	chr7:27912600-27915400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:27912800-27915800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:27912800-27916600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:27912800-27916800	Enhancers	Pancreas	Pancrea
30	chr7:27913000-27914800	Enhancers	Fetal Heart	heart
31	chr7:27913000-27914800	Enhancers	Small Intestine	intestine
32	chr7:27913000-27915400	Enhancers	Spleen	Spleen
33	chr7:27913200-27915000	Enhancers	Lung	lung
34	chr7:27913200-27915200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:27913400-27914800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:27913400-27914800	Weak transcription	Primary B cells from cord blood	blood
37	chr7:27913600-27915000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:27913600-27915200	Enhancers	Placenta	Placenta
39	chr7:27913600-27915800	Enhancers	Right Ventricle	heart
40	chr7:27914000-27914800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:27914000-27933000	Weak transcription	Aorta	Aorta
42	chr7:27914400-27915200	Enhancers	HUVEC	blood vessel
43	chr7:27914400-27922600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:27914400-27937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:27914600-27921400	Weak transcription	Fetal Brain Male	brain
46	chr7:27914600-27922000	Weak transcription	Right Atrium	heart
47	chr7:27914600-27923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:27914600-27923600	Weak transcription	Fetal Stomach	stomach
49	chr7:27914600-27933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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