Variant report

Variant	rs528827248
Chromosome Location	chr5:94956016-94956017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94953878..94956024-chr5:94981084..94983825,2	K562	blood:
2	chr5:94889800..94892273-chr5:94955578..94957837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
3	esv1823097	chr5:94955602-94956753	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1840660	chr5:94955602-94956753	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv598956	chr5:94955602-94956831	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1842645	chr5:94955602-94962981	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3340930	chr5:94955821-94958369	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv823145	chr5:94955997-94957264	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:94955000-94956400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr5:94955000-94957600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:94955000-94957600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:94955200-94956200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:94955200-94956200	Flanking Active TSS	Osteobl	bone
7	chr5:94955200-94956400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr5:94955200-94957000	Flanking Active TSS	HUVEC	blood vessel
9	chr5:94955200-94957200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:94955200-94957200	Flanking Active TSS	NH-A	brain
11	chr5:94955200-94957400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:94955200-94957600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr5:94955200-94957600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:94955200-94957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:94955400-94956200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
16	chr5:94955400-94956200	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr5:94955400-94956200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:94955400-94956200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr5:94955400-94956200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr5:94955400-94956200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr5:94955400-94956200	Flanking Active TSS	Right Ventricle	heart
22	chr5:94955400-94956200	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr5:94955400-94956400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:94955400-94956400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr5:94955400-94956400	Flanking Active TSS	Liver	Liver
26	chr5:94955400-94956400	Flanking Active TSS	Placenta	Placenta
27	chr5:94955400-94956400	Active TSS	Right Atrium	heart
28	chr5:94955400-94957000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:94955400-94957200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:94955400-94957400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:94955400-94957400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:94955400-94957400	Active TSS	Brain Cingulate Gyrus	brain
33	chr5:94955400-94957400	Active TSS	Brain Substantia Nigra	brain
34	chr5:94955400-94957400	Active TSS	Psoas Muscle	Psoas
35	chr5:94955400-94957600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:94955400-94957600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:94955400-94957600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:94955400-94957600	Active TSS	Brain Angular Gyrus	brain
39	chr5:94955400-94957600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:94955400-94957800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:94955400-94958200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:94955600-94956200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr5:94955600-94956200	Flanking Bivalent TSS/Enh	NHEK	skin
50	chr5:94955600-94956400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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