Variant report

Variant	rs530286145
Chromosome Location	chr1:179944945-179944946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179939017..179942607-chr1:179944050..179947079,4	K562	blood:
2	chr1:179942775..179945935-chr1:180123347..180127913,4	K562	blood:
3	chr1:179895869..179898507-chr1:179943673..179945207,2	MCF-7	breast:
4	chr1:179942648..179945152-chr1:179948148..179949689,2	K562	blood:
5	chr1:179932721..179934839-chr1:179944421..179947107,2	K562	blood:
6	chr1:179944177..179947056-chr1:179949748..179951797,3	K562	blood:
7	chr1:179939932..179942929-chr1:179944050..179946455,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116260	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv872573	chr1:179929388-180093066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv466228	chr1:179944901-180067988	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv548340	chr1:179944901-180067988	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv520322	chr1:179944901-180071987	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179924800-179963600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:179925200-179946200	Weak transcription	Stomach Mucosa	stomach
3	chr1:179925400-179946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:179926800-179961400	Weak transcription	A549	lung
5	chr1:179927000-179965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:179934600-179945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:179936000-179946400	Weak transcription	NHLF	lung
8	chr1:179936200-179946000	Weak transcription	Fetal Lung	lung
9	chr1:179936200-179946000	Weak transcription	HepG2	liver
10	chr1:179936400-179955600	Weak transcription	Dnd41	blood
11	chr1:179936600-179958800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:179937800-179946200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:179938000-179983200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:179938400-179948600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:179938600-179945400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:179938600-179946000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:179938600-179946000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:179938600-179946000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:179938600-179946000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:179938600-179954600	Weak transcription	Fetal Thymus	thymus
21	chr1:179938600-179956400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:179938600-179956800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:179938600-179956800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:179938600-179956800	Weak transcription	Fetal Stomach	stomach
25	chr1:179938600-179957600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:179938600-179959000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:179938600-179965800	Weak transcription	Esophagus	oesophagus
28	chr1:179938600-179975800	Weak transcription	Thymus	Thymus
29	chr1:179938600-179983200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:179938600-179984600	Weak transcription	Lung	lung
31	chr1:179938800-179953400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:179938800-179959800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:179939000-179945400	Weak transcription	Osteobl	bone
34	chr1:179939000-179946000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:179939000-179948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:179939000-179954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:179939000-179989000	Weak transcription	Gastric	stomach
38	chr1:179939200-179945800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:179939200-179946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:179939600-179955600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:179939800-179946000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:179939800-179946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:179939800-179946200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:179939800-179948000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:179939800-179956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:179939800-179959400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:179939800-179974800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:179940000-179945200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:179940000-179946000	Weak transcription	Liver	Liver
50	chr1:179940000-179953400	Weak transcription	Muscle Satellite Cultured Cells	--

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