Variant report

Variant	rs540727176
Chromosome Location	chr5:81076303-81076304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81069624..81072338-chr5:81075602..81078025,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv980937	chr5:81075334-81097245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:81072400-81083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:81075200-81083800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:81075200-81083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:81075400-81082400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:81075600-81077000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:81075600-81079000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:81075600-81079000	Weak transcription	Placenta	Placenta
9	chr5:81075600-81079200	Weak transcription	Brain Angular Gyrus	brain
10	chr5:81075600-81079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:81075600-81082200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:81075600-81082400	Weak transcription	Fetal Brain Female	brain
13	chr5:81075600-81083600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:81075600-81085000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:81075800-81076600	Enhancers	Dnd41	blood
16	chr5:81075800-81078400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:81075800-81078600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:81075800-81078800	Weak transcription	HSMM	muscle
19	chr5:81075800-81079000	Weak transcription	Small Intestine	intestine
20	chr5:81075800-81081400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:81075800-81082200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:81075800-81082400	Weak transcription	Fetal Lung	lung
23	chr5:81075800-81082600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:81075800-81083000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:81076000-81076800	Weak transcription	NHEK	skin
26	chr5:81076000-81078400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:81076000-81078400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:81076000-81078600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:81076000-81078600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:81076000-81078600	Weak transcription	K562	blood
31	chr5:81076000-81078600	Weak transcription	NHDF-Ad	bronchial
32	chr5:81076000-81078800	Weak transcription	Brain Substantia Nigra	brain
33	chr5:81076000-81078800	Weak transcription	NHLF	lung
34	chr5:81076000-81079000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:81076000-81079000	Weak transcription	Brain Anterior Caudate	brain
36	chr5:81076000-81079000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:81076000-81079000	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:81076000-81079000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:81076000-81079000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:81076000-81079000	Weak transcription	Fetal Thymus	thymus
41	chr5:81076000-81079000	Weak transcription	Pancreas	Pancrea
42	chr5:81076000-81079000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:81076000-81079000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:81076000-81079000	Weak transcription	Spleen	Spleen
45	chr5:81076000-81079000	Weak transcription	Osteobl	bone
46	chr5:81076000-81079200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:81076000-81079200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:81076000-81081000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:81076000-81081000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:81076000-81082400	Weak transcription	Rectal Mucosa Donor 31	rectum

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