Variant report

Variant	rs536000248
Chromosome Location	chr5:96248475-96248476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv823147	chr5:96247723-96257836	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
3	chr5:96218600-96259600	Weak transcription	HMEC	breast
4	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
5	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
7	chr5:96225600-96266400	Weak transcription	Gastric	stomach
8	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
9	chr5:96229800-96256800	Weak transcription	NHEK	skin
10	chr5:96229800-96256800	Weak transcription	Osteobl	bone
11	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
13	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:96233800-96256000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:96234200-96255600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:96237600-96250600	Weak transcription	Hela-S3	cervix
20	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:96238400-96256800	Weak transcription	NHDF-Ad	bronchial
22	chr5:96239400-96256800	Weak transcription	HSMM	muscle
23	chr5:96239400-96257200	Weak transcription	NHLF	lung
24	chr5:96239600-96252800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
26	chr5:96240200-96253600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:96240400-96254200	Strong transcription	GM12878-XiMat	blood
28	chr5:96240600-96256800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:96242000-96259800	Weak transcription	Fetal Stomach	stomach
30	chr5:96242200-96255600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:96242200-96256000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:96243400-96257200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:96243600-96255000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:96243600-96266400	Weak transcription	Brain Angular Gyrus	brain
36	chr5:96243800-96256000	Strong transcription	Fetal Thymus	thymus
37	chr5:96244200-96258600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:96245200-96256600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:96245400-96258200	Weak transcription	Small Intestine	intestine
40	chr5:96245400-96259600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:96245400-96259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:96245600-96249000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:96245600-96249800	Weak transcription	Primary B cells from cord blood	blood
44	chr5:96245600-96255800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:96245800-96249000	Weak transcription	Lung	lung
46	chr5:96245800-96251400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:96245800-96253600	Weak transcription	Placenta	Placenta
48	chr5:96245800-96254200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:96245800-96256600	Weak transcription	HUVEC	blood vessel
50	chr5:96245800-96256800	Weak transcription	Colon Smooth Muscle	Colon

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