Variant report

Variant	rs73405824
Chromosome Location	chr7:104830373-104830374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58180831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58959327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60968925	1.00[AMR][1000 genomes]
rs61334733	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405817	1.00[AMR][1000 genomes]
rs73405834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405840	1.00[AMR][1000 genomes]
rs73405842	1.00[AMR][1000 genomes]
rs73405879	1.00[AMR][1000 genomes]
rs73407822	1.00[AMR][1000 genomes]
rs73407843	1.00[AMR][1000 genomes]
rs73407877	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407879	1.00[AMR][1000 genomes]
rs73409846	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409847	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409856	1.00[AMR][1000 genomes]
rs73409858	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409861	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409864	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104809000-104836600	Weak transcription	HSMM	muscle
7	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:104809600-104838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:104809800-104838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:104810200-104840600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:104814000-104839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:104815600-104836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:104820800-104833800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:104821000-104838400	Weak transcription	Fetal Lung	lung
15	chr7:104821200-104830400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:104821600-104838400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:104822000-104836400	Weak transcription	A549	lung
18	chr7:104822000-104858800	Weak transcription	Gastric	stomach
19	chr7:104822800-104838200	Weak transcription	Primary T cells from cord blood	blood
20	chr7:104823600-104848600	Strong transcription	Dnd41	blood
21	chr7:104825000-104837800	Weak transcription	NH-A	brain
22	chr7:104826200-104831600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:104826400-104830400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:104826400-104831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:104827000-104839800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:104827400-104843400	Weak transcription	Psoas Muscle	Psoas
27	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
28	chr7:104827600-104831200	Enhancers	Brain Anterior Caudate	brain
29	chr7:104827800-104837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:104827800-104838800	Weak transcription	K562	blood
31	chr7:104828000-104831200	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:104828000-104838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:104828200-104840400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:104828400-104836800	Enhancers	Brain Substantia Nigra	brain
35	chr7:104828600-104841000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
37	chr7:104828800-104830800	Weak transcription	Fetal Heart	heart
38	chr7:104828800-104835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:104828800-104850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:104829000-104833400	Weak transcription	GM12878-XiMat	blood
41	chr7:104829000-104833600	Weak transcription	HepG2	liver
42	chr7:104829000-104838200	Weak transcription	Fetal Stomach	stomach
43	chr7:104829000-104839200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:104829200-104830800	Enhancers	Brain Hippocampus Middle	brain
45	chr7:104829200-104830800	Weak transcription	Osteobl	bone
46	chr7:104829200-104831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:104829200-104831200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:104829400-104831200	Enhancers	Brain Angular Gyrus	brain
49	chr7:104829400-104831200	Enhancers	Left Ventricle	heart
50	chr7:104829400-104831200	Enhancers	Pancreas	Pancrea

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