Variant report

Variant	rs58348680
Chromosome Location	chr7:8045285-8045286
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:
2	chr7:8043881..8046196-chr7:8058398..8061346,2	MCF-7	breast:
3	chr7:8009215..8011619-chr7:8044493..8047371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16872488	0.82[AMR][1000 genomes]
rs17141597	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17141865	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17141876	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17142053	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17142255	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17142349	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17142477	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17142679	0.86[AMR][1000 genomes]
rs17142685	0.86[AMR][1000 genomes]
rs58145708	0.91[AMR][1000 genomes]
rs58707745	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59427694	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59437461	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59697814	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60069006	0.85[AMR][1000 genomes]
rs60920460	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61351831	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62433384	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62433385	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62433405	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62433406	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62433407	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433408	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433442	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433444	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433449	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62435365	0.84[AMR][1000 genomes]
rs62435371	0.85[AMR][1000 genomes]
rs9640055	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1796855	chr7:8042555-8047169	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
3	chr7:8036400-8046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
5	chr7:8036600-8045600	Weak transcription	Liver	Liver
6	chr7:8036600-8045600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:8036600-8045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:8036600-8045800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:8036800-8046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
16	chr7:8038200-8045800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:8038400-8046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
19	chr7:8039400-8046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:8039400-8046400	Weak transcription	Left Ventricle	heart
21	chr7:8039400-8046400	Weak transcription	Ovary	ovary
22	chr7:8040000-8046400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:8041000-8045400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:8041000-8045800	Weak transcription	Fetal Kidney	kidney
25	chr7:8041200-8046400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:8041600-8046400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:8041600-8053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:8041600-8095000	Weak transcription	Gastric	stomach
30	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:8042200-8045600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:8042200-8045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:8042400-8046400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:8042600-8045600	Weak transcription	Primary T cells from cord blood	blood
35	chr7:8042600-8045600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:8042800-8046800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:8042800-8047200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:8043000-8046400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:8043000-8046400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:8043000-8049400	Strong transcription	Dnd41	blood
42	chr7:8043000-8050600	Strong transcription	GM12878-XiMat	blood
43	chr7:8043000-8051600	Strong transcription	Fetal Thymus	thymus
44	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:8043200-8045400	Weak transcription	Fetal Stomach	stomach
46	chr7:8043200-8048400	Strong transcription	Hela-S3	cervix
47	chr7:8043200-8048800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:8043200-8048800	Weak transcription	NHDF-Ad	bronchial
49	chr7:8043400-8045400	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:8043400-8045600	Weak transcription	Brain Anterior Caudate	brain

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