Variant report

Variant	rs549669613
Chromosome Location	chr1:174783167-174783168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174780849..174783447-chr1:174946547..174949179,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1800291	chr1:174782523-174789611	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174769800-174787600	Weak transcription	Pancreas	Pancrea
2	chr1:174770000-174783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:174770000-174784200	Weak transcription	HSMM	muscle
4	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
5	chr1:174770200-174784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:174770200-174788200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174770400-174784200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:174770400-174784400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:174770800-174783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:174770800-174786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:174770800-174787600	Weak transcription	Fetal Stomach	stomach
12	chr1:174771600-174787400	Weak transcription	Fetal Brain Male	brain
13	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:174772600-174784200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:174772600-174784400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:174777600-174786000	Weak transcription	Left Ventricle	heart
17	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:174778600-174783800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:174779400-174784400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:174779400-174786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:174779600-174784000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:174779600-174784200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:174780400-174783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:174780600-174783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:174780600-174783400	Weak transcription	GM12878-XiMat	blood
26	chr1:174780800-174783600	Weak transcription	NHEK	skin
27	chr1:174781600-174784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:174781800-174787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:174782200-174783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:174782200-174784200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:174782200-174784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:174782200-174784200	Weak transcription	Small Intestine	intestine
34	chr1:174782200-174784200	Weak transcription	NH-A	brain
35	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:174782400-174783600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:174782400-174784200	Weak transcription	HSMMtube	muscle
39	chr1:174782400-174784200	Weak transcription	NHLF	lung
40	chr1:174782400-174785400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:174782400-174786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:174782400-174786800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:174782400-174787000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:174782600-174784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:174782600-174786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:174782600-174799200	Weak transcription	Liver	Liver
47	chr1:174782800-174783600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:174783000-174786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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