Variant report

Variant	rs529358103
Chromosome Location	chr1:223904241-223904242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223884407..223886063-chr1:223901694..223904527,2	K562	blood:
2	chr1:223903451..223905300-chr1:223920938..223923297,2	MCF-7	breast:
3	chr1:223887434..223890501-chr1:223901110..223904266,3	K562	blood:
4	chr1:223891592..223893967-chr1:223903233..223904840,2	K562	blood:
5	chr1:223903418..223905687-chr1:223928822..223931791,2	MCF-7	breast:
6	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
7	chr1:223901394..223904242-chr1:223919607..223921227,2	K562	blood:

Variant related genes	Relation type
ENSG00000162909	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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv437346	chr1:223903781-223905532	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223900800-223904400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:223900800-223906000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:223901000-223905200	Enhancers	Spleen	Spleen
4	chr1:223901000-223905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:223901200-223904600	Enhancers	Small Intestine	intestine
6	chr1:223901200-223904800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:223901200-223905400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:223901400-223904400	Transcr. at gene 5' and 3'	NHLF	lung
9	chr1:223901400-223904800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
10	chr1:223901400-223905600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:223901400-223907600	Transcr. at gene 5' and 3'	A549	lung
12	chr1:223901600-223904600	Enhancers	Brain Hippocampus Middle	brain
13	chr1:223901600-223905200	Transcr. at gene 5' and 3'	NHEK	skin
14	chr1:223901600-223905800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:223901600-223906200	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:223901600-223906400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:223901800-223904400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:223901800-223904600	Enhancers	Right Atrium	heart
19	chr1:223901800-223904800	Enhancers	Fetal Brain Female	brain
20	chr1:223901800-223905000	Enhancers	Fetal Heart	heart
21	chr1:223901800-223905000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr1:223901800-223905200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:223901800-223905600	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr1:223901800-223905800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:223901800-223906200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:223902000-223904400	Enhancers	Brain Anterior Caudate	brain
27	chr1:223902000-223905000	Enhancers	Fetal Brain Male	brain
28	chr1:223902200-223904400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:223902200-223904600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:223902200-223904800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:223902200-223904800	Genic enhancers	Fetal Stomach	stomach
32	chr1:223902200-223905200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr1:223902200-223913400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:223902400-223904400	Enhancers	Brain Substantia Nigra	brain
35	chr1:223902400-223905800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:223902400-223906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:223902400-223906600	Enhancers	Fetal Thymus	thymus
38	chr1:223902600-223904800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:223902600-223904800	Enhancers	Stomach Mucosa	stomach
40	chr1:223902600-223904800	Flanking Active TSS	HSMMtube	muscle
41	chr1:223902600-223905000	Enhancers	Gastric	stomach
42	chr1:223902600-223905000	Flanking Active TSS	GM12878-XiMat	blood
43	chr1:223902600-223905200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:223902600-223905400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:223902600-223906000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:223902800-223904400	Enhancers	Left Ventricle	heart
47	chr1:223902800-223904800	Enhancers	Psoas Muscle	Psoas
48	chr1:223902800-223905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:223902800-223914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:223903000-223905000	Genic enhancers	Colon Smooth Muscle	Colon

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