Variant report

Variant	rs560083481
Chromosome Location	chr5:114969750-114969751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
2	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
3	chr5:114968611..114971610-chr5:115175867..115178509,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3348155	chr5:114968703-114970801	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv5929	chr5:114969148-114970096	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3469758	chr5:114969247-114969892	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3498237	chr5:114969266-114970052	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3498238	chr5:114969269-114969893	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3501466	chr5:114969283-114969866	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3469759	chr5:114969291-114969898	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3469760	chr5:114969307-114969868	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3501465	chr5:114969311-114969869	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3364386	chr5:114969311-114969938	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3469761	chr5:114969337-114969860	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3498239	chr5:114969337-114969860	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3501467	chr5:114969337-114969860	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1007391	chr5:114969341-114969815	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1402507	chr5:114969384-114969859	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3498236	chr5:114969397-114970001	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3369833	chr5:114969653-114971951	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114962600-114969800	Weak transcription	HUVEC	blood vessel
3	chr5:114962600-114969800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:114962600-114970000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:114962800-114970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:114963000-114969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:114963000-114969800	Weak transcription	NHDF-Ad	bronchial
8	chr5:114963000-114970000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:114963000-114970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:114963200-114969800	Weak transcription	Primary T cells from cord blood	blood
11	chr5:114963200-114970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:114963200-114970000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:114963400-114969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:114963400-114970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:114963400-114970000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:114966200-114970000	Weak transcription	K562	blood
17	chr5:114967400-114969800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:114967600-114969800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:114967800-114969800	Weak transcription	HMEC	breast
20	chr5:114967800-114970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:114968400-114969800	Enhancers	Liver	Liver
22	chr5:114968600-114969800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:114968600-114969800	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:114968600-114970000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:114968600-114970200	Weak transcription	Psoas Muscle	Psoas
26	chr5:114968800-114969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:114968800-114969800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:114968800-114970000	Weak transcription	Fetal Brain Female	brain
29	chr5:114968800-114970000	Weak transcription	Fetal Intestine Large	intestine
30	chr5:114969000-114969800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:114969000-114969800	Enhancers	Dnd41	blood
32	chr5:114969000-114969800	Enhancers	Osteobl	bone
33	chr5:114969000-114970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:114969000-114970600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:114969200-114969800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:114969200-114969800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:114969200-114969800	Weak transcription	HepG2	liver
38	chr5:114969200-114970000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:114969200-114970000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:114969200-114970000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:114969200-114970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:114969200-114970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:114969600-114969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:114969600-114969800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:114969600-114969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:114969600-114969800	Enhancers	Fetal Lung	lung
47	chr5:114969600-114969800	Enhancers	NHLF	lung

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