Variant report

Variant	rs555837289
Chromosome Location	chr5:43103007-43103008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43090248..43092975-chr5:43100628..43104781,4	K562	blood:
2	chr5:43097961..43099842-chr5:43101388..43103313,2	K562	blood:
3	chr5:43101287..43104351-chr5:43114086..43116858,3	K562	blood:
4	chr5:43101457..43103139-chr5:43103471..43105686,2	K562	blood:
5	chr5:43091142..43094449-chr5:43100206..43103441,4	K562	blood:
6	chr5:43017696..43020523-chr5:43103007..43104951,2	MCF-7	breast:
7	chr5:43083087..43086074-chr5:43102781..43107295,4	K562	blood:

Variant related genes	Relation type
ENSG00000251131	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases
10	nsv981009	chr5:43101558-43114874	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
2	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:43075600-43105000	Weak transcription	NHLF	lung
5	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas
7	chr5:43075800-43105400	Weak transcription	Right Ventricle	heart
8	chr5:43075800-43105600	Weak transcription	Pancreas	Pancrea
9	chr5:43076000-43104200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:43076200-43105400	Weak transcription	Brain Angular Gyrus	brain
11	chr5:43077800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:43078600-43104200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:43079400-43105400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:43080200-43105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:43080800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:43081000-43105600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:43081200-43105400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:43081200-43105400	Weak transcription	NHDF-Ad	bronchial
19	chr5:43081400-43105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:43081400-43105400	Weak transcription	Brain Anterior Caudate	brain
21	chr5:43081400-43105400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:43081800-43105400	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:43081800-43105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:43082000-43105400	Weak transcription	Liver	Liver
25	chr5:43082200-43104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:43082400-43105400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:43084800-43105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:43084800-43105400	Weak transcription	Fetal Kidney	kidney
29	chr5:43085000-43105400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:43085000-43105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:43085400-43104600	Weak transcription	Osteobl	bone
32	chr5:43085800-43104200	Weak transcription	Thymus	Thymus
33	chr5:43086000-43105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:43086000-43105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:43086000-43106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:43086400-43105400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:43090600-43104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:43091400-43105400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:43091600-43105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:43092000-43104200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:43092200-43105400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:43092400-43104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:43092400-43105400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:43092800-43105200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:43092800-43105600	Weak transcription	Fetal Brain Male	brain
46	chr5:43093200-43105200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:43093200-43105600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:43093400-43105400	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:43093600-43105400	Weak transcription	Fetal Intestine Large	intestine
50	chr5:43093600-43105400	Weak transcription	Ovary	ovary

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