Variant report

Variant	rs7794206
Chromosome Location	chr7:140306244-140306245
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	chr7:140299787..140302664-chr7:140303935..140306575,2	K562	blood:
2	chr7:140301959..140304839-chr7:140305867..140308448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10264061	1.00[EUR][1000 genomes]
rs10270838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17621539	0.87[YRI][hapmap]
rs2062317	1.00[ASN][1000 genomes]
rs269249	1.00[ASN][1000 genomes]
rs56942922	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57570112	1.00[EUR][1000 genomes]
rs61369053	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6947111	1.00[EUR][1000 genomes]
rs6971144	0.90[EUR][1000 genomes]
rs73498497	0.90[EUR][1000 genomes]
rs73500424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736619	0.90[EUR][1000 genomes]
rs7776899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7787161	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789961	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7796944	1.00[EUR][1000 genomes]
rs7811087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
3	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
6	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
7	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
8	chr7:140297800-140306800	Weak transcription	Spleen	Spleen
9	chr7:140299200-140306800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:140302200-140306400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:140302200-140306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:140302200-140307000	Weak transcription	Brain Germinal Matrix	brain
13	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:140302400-140306400	Weak transcription	Brain Anterior Caudate	brain
15	chr7:140302400-140307200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:140302400-140307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
18	chr7:140302800-140306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:140303600-140306400	Weak transcription	Placenta	Placenta
21	chr7:140303600-140307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:140303800-140310800	Enhancers	NHDF-Ad	bronchial
23	chr7:140304000-140306400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:140304000-140306800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:140304200-140307200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:140304200-140312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:140304600-140306400	Weak transcription	Fetal Lung	lung
28	chr7:140304600-140308200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:140304800-140307200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:140305000-140307000	Weak transcription	Lung	lung
31	chr7:140305000-140307800	Enhancers	Left Ventricle	heart
32	chr7:140305000-140308800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr7:140305000-140309200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:140305200-140308800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:140305200-140308800	Genic enhancers	Fetal Stomach	stomach
36	chr7:140305200-140308800	Enhancers	NHLF	lung
37	chr7:140305200-140309000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:140305400-140306400	Weak transcription	Adipose Nuclei	Adipose
39	chr7:140305400-140306600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:140305400-140306800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:140305400-140310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:140305400-140311200	Genic enhancers	Fetal Muscle Leg	muscle
43	chr7:140305600-140306600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:140305600-140306600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:140305600-140306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:140305600-140306800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:140305600-140306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:140305600-140306800	Weak transcription	Ovary	ovary
49	chr7:140305600-140307000	Weak transcription	HSMMtube	muscle
50	chr7:140305600-140307000	Weak transcription	Osteobl	bone

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