Variant report

Variant	rs546636246
Chromosome Location	chr5:43665563-43665564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv968171	chr5:43665149-43674339	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:43650400-43665800	Weak transcription	Colonic Mucosa	Colon
7	chr5:43650600-43673000	Weak transcription	Right Ventricle	heart
8	chr5:43650800-43673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:43650800-43676200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:43651000-43665800	Weak transcription	Placenta	Placenta
11	chr5:43651800-43666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:43652200-43666000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:43652400-43665600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:43653000-43675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43653400-43665800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:43653400-43674200	Weak transcription	HSMMtube	muscle
17	chr5:43657000-43668400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:43657000-43674400	Weak transcription	Pancreas	Pancrea
19	chr5:43657600-43676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:43657600-43695200	Weak transcription	K562	blood
21	chr5:43658600-43665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:43659400-43696800	Weak transcription	Gastric	stomach
23	chr5:43659600-43675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
26	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
27	chr5:43659600-43710000	Weak transcription	Ovary	ovary
28	chr5:43659800-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:43659800-43665800	Weak transcription	Fetal Intestine Small	intestine
30	chr5:43660000-43665800	Weak transcription	Brain Germinal Matrix	brain
31	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:43660800-43666400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:43661000-43665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:43661000-43665800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:43661000-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:43661000-43665800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:43661000-43665800	Weak transcription	Fetal Intestine Large	intestine
39	chr5:43661000-43665800	Weak transcription	Fetal Stomach	stomach
40	chr5:43661000-43665800	Weak transcription	Lung	lung
41	chr5:43661000-43665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:43661000-43665800	Weak transcription	Thymus	Thymus
43	chr5:43661000-43665800	Weak transcription	Spleen	Spleen
44	chr5:43661000-43666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:43661000-43666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:43661000-43666000	Weak transcription	Aorta	Aorta
47	chr5:43661000-43666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:43661000-43666200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:43661000-43666200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:43661000-43673200	Weak transcription	Stomach Smooth Muscle	stomach

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