Variant report

Variant	rs73131648
Chromosome Location	chr5:76085273-76085274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76083391..76086055-chr5:76095285..76096948,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61318646	1.00[AMR][1000 genomes]
rs73129603	1.00[AMR][1000 genomes]
rs73129624	1.00[AMR][1000 genomes]
rs73129631	1.00[AMR][1000 genomes]
rs73129644	1.00[AMR][1000 genomes]
rs73131653	0.81[AFR][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76077800-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:76080400-76086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:76080600-76086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:76080800-76085800	Weak transcription	Small Intestine	intestine
5	chr5:76080800-76086600	Weak transcription	Colonic Mucosa	Colon
6	chr5:76081600-76088800	Enhancers	Stomach Mucosa	stomach
7	chr5:76081800-76085400	Weak transcription	NHEK	skin
8	chr5:76081800-76085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:76081800-76086200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:76082000-76085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:76082000-76085600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:76083000-76087800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:76083200-76086000	Weak transcription	HSMMtube	muscle
14	chr5:76083400-76085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:76083400-76085400	Weak transcription	HMEC	breast
16	chr5:76083400-76085600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:76083400-76085600	Enhancers	A549	lung
18	chr5:76083400-76085800	Weak transcription	HSMM	muscle
19	chr5:76083400-76086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:76083400-76086600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:76083400-76089200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:76083600-76085400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:76083600-76085400	Weak transcription	Adipose Nuclei	Adipose
24	chr5:76083600-76085600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:76083600-76085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:76083600-76085800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:76083600-76085800	Weak transcription	K562	blood
28	chr5:76083600-76086600	Weak transcription	Aorta	Aorta
29	chr5:76083800-76085600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:76083800-76085800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:76084000-76088200	Enhancers	Fetal Lung	lung
32	chr5:76084200-76088200	Enhancers	Fetal Stomach	stomach
33	chr5:76084200-76088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:76084400-76085400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:76084400-76085400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:76084400-76085400	Weak transcription	Left Ventricle	heart
37	chr5:76084400-76085400	Weak transcription	Spleen	Spleen
38	chr5:76084400-76085400	Weak transcription	NH-A	brain
39	chr5:76084400-76085400	Weak transcription	Osteobl	bone
40	chr5:76084400-76085600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:76084400-76085600	Weak transcription	NHDF-Ad	bronchial
42	chr5:76084400-76086000	Weak transcription	HepG2	liver
43	chr5:76084400-76086800	Weak transcription	Pancreas	Pancrea
44	chr5:76084600-76085600	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:76084600-76085600	Weak transcription	Hela-S3	cervix
46	chr5:76084600-76085800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:76084600-76085800	Weak transcription	Fetal Intestine Large	intestine
48	chr5:76084600-76085800	Weak transcription	Fetal Intestine Small	intestine
49	chr5:76084600-76085800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:76084600-76085800	Weak transcription	Right Atrium	heart

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