Variant report

Variant	rs73314830
Chromosome Location	chr7:40260532-40260533
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40259840..40262064-chr7:40262266..40264754,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61210355	1.00[AMR][1000 genomes]
rs73312931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73312936	1.00[AMR][1000 genomes]
rs73312965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73312989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314814	1.00[AMR][1000 genomes]
rs73314819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314823	1.00[AMR][1000 genomes]
rs73377804	1.00[AMR][1000 genomes]
rs73392784	1.00[AMR][1000 genomes]
rs73392788	1.00[AMR][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	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS 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	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1019032	chr7:40204606-40280323	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887983	chr7:40211563-40284166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887984	chr7:40227307-40284166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40236600-40264400	Weak transcription	Pancreas	Pancrea
2	chr7:40240400-40260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:40251400-40264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:40253200-40264000	Weak transcription	Aorta	Aorta
5	chr7:40258200-40263400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:40258200-40264000	Weak transcription	Liver	Liver
7	chr7:40258600-40260600	Genic enhancers	HSMM	muscle
8	chr7:40258600-40262400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:40258800-40263200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:40258800-40271800	Weak transcription	Fetal Intestine Large	intestine
11	chr7:40258800-40273800	Weak transcription	Fetal Intestine Small	intestine
12	chr7:40259000-40260600	Enhancers	HSMMtube	muscle
13	chr7:40259000-40260600	Enhancers	NHDF-Ad	bronchial
14	chr7:40259000-40261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:40259000-40262600	Enhancers	Osteobl	bone
16	chr7:40259000-40262800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:40259000-40263400	Enhancers	HMEC	breast
18	chr7:40259000-40264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:40259200-40262200	Enhancers	HUVEC	blood vessel
20	chr7:40259200-40262600	Enhancers	NH-A	brain
21	chr7:40259200-40263400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:40259200-40263400	Enhancers	NHEK	skin
23	chr7:40259200-40263600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:40259400-40262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:40259400-40262200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:40259600-40260600	Enhancers	Hela-S3	cervix
27	chr7:40259600-40260600	Enhancers	NHLF	lung
28	chr7:40259600-40261000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:40259600-40262600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:40259800-40261800	Enhancers	Ovary	ovary
31	chr7:40260000-40260800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:40260000-40262200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:40260200-40261200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:40260200-40261800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:40260400-40261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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