Variant report

Variant	rs534316418
Chromosome Location	chr5:76087612-76087613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
8	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76081600-76088800	Enhancers	Stomach Mucosa	stomach
2	chr5:76083000-76087800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:76083400-76089200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:76084000-76088200	Enhancers	Fetal Lung	lung
5	chr5:76084200-76088200	Enhancers	Fetal Stomach	stomach
6	chr5:76084200-76088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:76085200-76088000	Enhancers	NHLF	lung
8	chr5:76085400-76087800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:76085400-76088000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:76085400-76088000	Enhancers	Adipose Nuclei	Adipose
11	chr5:76085400-76088000	Enhancers	Spleen	Spleen
12	chr5:76085400-76088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:76085400-76088200	Enhancers	HMEC	breast
14	chr5:76085600-76087800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:76085600-76088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:76085600-76088000	Enhancers	Brain Hippocampus Middle	brain
17	chr5:76085600-76088200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:76085600-76088200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:76085600-76088400	Enhancers	Fetal Muscle Leg	muscle
20	chr5:76085600-76090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:76085800-76087800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:76085800-76087800	Enhancers	Fetal Intestine Small	intestine
23	chr5:76085800-76087800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:76085800-76087800	Enhancers	Small Intestine	intestine
25	chr5:76085800-76088000	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:76085800-76088200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:76085800-76088800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:76086000-76087800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:76086000-76087800	Enhancers	HSMMtube	muscle
30	chr5:76086000-76088000	Enhancers	HepG2	liver
31	chr5:76086000-76088200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:76086000-76088400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:76086200-76087800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:76086200-76087800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:76086200-76088400	Enhancers	HUVEC	blood vessel
36	chr5:76086400-76087800	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:76086600-76087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:76086600-76087800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:76086600-76087800	Enhancers	Fetal Thymus	thymus
40	chr5:76086600-76087800	Enhancers	Ovary	ovary
41	chr5:76086600-76088000	Enhancers	Brain Angular Gyrus	brain
42	chr5:76086600-76088000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr5:76086600-76088200	Enhancers	Brain Substantia Nigra	brain
44	chr5:76086800-76087800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:76086800-76088200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:76087000-76088000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:76087000-76088000	Enhancers	NHDF-Ad	bronchial
48	chr5:76087000-76088200	Enhancers	Hela-S3	cervix
49	chr5:76087000-76088200	Enhancers	NHEK	skin
50	chr5:76087200-76087800	Enhancers	HSMM	muscle

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