Variant report

Variant	rs372746731
Chromosome Location	chr5:43638221-43638222
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	chr5:43633423..43636903-chr5:43637902..43641426,4	K562	blood:
2	chr5:43636622..43638460-chr5:43641354..43643193,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	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
4	nsv980970	chr5:43636826-43643825	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
3	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
5	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
7	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43608400-43640600	Strong transcription	Dnd41	blood
9	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:43616000-43648200	Weak transcription	HepG2	liver
16	chr5:43619000-43642800	Weak transcription	Fetal Brain Male	brain
17	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
18	chr5:43621200-43650200	Weak transcription	NHEK	skin
19	chr5:43621600-43651800	Weak transcription	HMEC	breast
20	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:43622200-43648200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:43623400-43645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:43628200-43638400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:43629000-43644400	Weak transcription	Fetal Intestine Small	intestine
26	chr5:43630200-43648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
28	chr5:43630600-43640800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:43631000-43640600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:43631600-43638400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:43631600-43642200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:43631600-43649200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:43631600-43664200	Weak transcription	A549	lung
35	chr5:43633000-43649200	Weak transcription	Ovary	ovary
36	chr5:43633200-43642200	Weak transcription	Osteobl	bone
37	chr5:43633200-43642400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:43633200-43643200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:43633200-43644600	Weak transcription	NH-A	brain
40	chr5:43633600-43642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:43633800-43640000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:43633800-43648600	Weak transcription	Fetal Stomach	stomach
43	chr5:43634200-43648400	Weak transcription	HUVEC	blood vessel
44	chr5:43634400-43638600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:43634800-43640600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:43635000-43650000	Weak transcription	K562	blood
47	chr5:43635200-43638400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr5:43635200-43638400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:43635200-43644800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:43635200-43648000	Weak transcription	Fetal Lung	lung

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