Variant report

Variant	rs75318848
Chromosome Location	chr1:223536607-223536608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:
2	chr1:223536301..223536801-chr22:50639192..50639860,2	HCT-116	colon:
3	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
4	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073169	Chromatin interaction
ENSG00000187554	Chromatin interaction
ENSG00000251789	Chromatin interaction
ENSG00000178395	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv826809	chr1:223536032-223538665	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438398	chr1:223536354-223539202	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535800-223538200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:223535800-223538800	Active TSS	Ovary	ovary
5	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
6	chr1:223536000-223536800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:223536000-223538200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr1:223536000-223538400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
11	chr1:223536200-223537400	Flanking Active TSS	HSMM	muscle
12	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:223536400-223536800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:223536400-223536800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
23	chr1:223536400-223536800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:223536400-223536800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr1:223536400-223536800	Flanking Active TSS	Esophagus	oesophagus
26	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
28	chr1:223536400-223536800	Bivalent Enhancer	Placenta	Placenta
29	chr1:223536400-223536800	Flanking Active TSS	Left Ventricle	heart
30	chr1:223536400-223536800	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	A549	lung
33	chr1:223536400-223536800	Flanking Bivalent TSS/Enh	HMEC	breast
34	chr1:223536400-223536800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr1:223536400-223537000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:223536400-223537000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:223536400-223537000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:223536400-223537000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:223536400-223537000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr1:223536400-223537000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:223536400-223537000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:223536400-223537000	Flanking Active TSS	Pancreas	Pancrea
43	chr1:223536400-223537000	Bivalent/Poised TSS	Osteobl	bone
44	chr1:223536400-223537200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr1:223536400-223537200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr1:223536400-223537200	Flanking Active TSS	Right Atrium	heart
47	chr1:223536400-223537200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:223536400-223537200	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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