Variant report

Variant	rs548837944
Chromosome Location	chr5:94955445-94955446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:94955334-94955942	GM12891	blood:	n/a	n/a
2	MTA3	chr5:94955345-94956454	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:94955314-94956505	GM12891	blood:	n/a	n/a
4	SPI1	chr5:94955182-94955540	HL-60	blood:	n/a	n/a
5	POLR2A	chr5:94955387-94955960	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:94955263-94957389	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94953878..94956024-chr5:94981084..94983825,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA9-2	chr5:94946081-94955781	NONHSAT102852

Variant related genes	Relation type
GPR150	TF binding region
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3421596	chr5:94954196-94958694	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94953200-94955600	Enhancers	NHEK	skin
2	chr5:94953800-94955800	Weak transcription	HMEC	breast
3	chr5:94954600-94955600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:94954600-94955600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:94954600-94955800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:94954800-94955600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:94954800-94955800	Enhancers	Dnd41	blood
8	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:94955000-94955600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr5:94955000-94956000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:94955000-94956400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr5:94955000-94957600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:94955000-94957600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:94955200-94955600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:94955200-94955600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr5:94955200-94955600	Bivalent Enhancer	Fetal Brain Male	brain
17	chr5:94955200-94955600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr5:94955200-94955600	Bivalent Enhancer	Fetal Heart	heart
19	chr5:94955200-94955600	Bivalent Enhancer	Fetal Kidney	kidney
20	chr5:94955200-94955600	Bivalent/Poised TSS	Thymus	Thymus
21	chr5:94955200-94955600	Active TSS	GM12878-XiMat	blood
22	chr5:94955200-94955800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr5:94955200-94955800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:94955200-94955800	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr5:94955200-94955800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr5:94955200-94956000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr5:94955200-94956200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:94955200-94956200	Flanking Active TSS	Osteobl	bone
29	chr5:94955200-94956400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr5:94955200-94957000	Flanking Active TSS	HUVEC	blood vessel
31	chr5:94955200-94957200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr5:94955200-94957200	Flanking Active TSS	NH-A	brain
33	chr5:94955200-94957400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:94955200-94957600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:94955200-94957600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr5:94955200-94957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:94955400-94955600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr5:94955400-94955600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:94955400-94955600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:94955400-94955600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:94955400-94955600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:94955400-94955600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr5:94955400-94955600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:94955400-94955600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:94955400-94955600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:94955400-94955600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:94955400-94955600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:94955400-94955600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:94955400-94955600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:94955400-94955600	Flanking Active TSS	Adipose Nuclei	Adipose

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