Variant report

Variant	rs572095774
Chromosome Location	chr1:184859569-184859570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:184857273-184860232	SK-N-SH	brain:	n/a	chr1:184857907-184857916
2	TCF12	chr1:184858793-184860045	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr1:184858966-184860189	SK-N-SH	brain:	n/a	chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860044-184860054 chr1:184860041-184860057 chr1:184860044-184860053 chr1:184859412-184859423 chr1:184860044-184860053
4	GATA3	chr1:184858959-184860203	SK-N-SH	brain:	n/a	chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860044-184860054 chr1:184860041-184860057 chr1:184860044-184860053 chr1:184859412-184859423 chr1:184860044-184860053
5	PBX3	chr1:184858954-184859978	SK-N-SH	brain:	n/a	n/a
6	GATA1	chr1:184859277-184860859	PBDE	blood:	n/a	chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860046-184860053 chr1:184860044-184860054 chr1:184860041-184860057 chr1:184860044-184860053 chr1:184859412-184859423 chr1:184860044-184860053
7	RUNX3	chr1:184859477-184859962	GM12878	blood:	n/a	chr1:184859707-184859716 chr1:184859707-184859716
8	PBX3	chr1:184858962-184860035	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FAM129A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv947555	chr1:184857808-184861749	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:184851600-184859600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
9	chr1:184852600-184859600	Weak transcription	Gastric	stomach
10	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:184853800-184859800	Weak transcription	GM12878-XiMat	blood
12	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
13	chr1:184854200-184861200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:184855000-184859600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:184855400-184860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184855400-184860000	Enhancers	NHDF-Ad	bronchial
17	chr1:184855600-184868800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:184855600-184869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:184855800-184860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:184855800-184868600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:184856600-184860000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:184857000-184860200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:184857000-184860400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:184857200-184860400	Enhancers	HMEC	breast
25	chr1:184857200-184875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:184857400-184860600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:184857400-184860800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:184857400-184861400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:184857400-184861400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:184857600-184859600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:184858200-184859600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:184858200-184860000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:184858400-184859600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:184858400-184859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:184858400-184859600	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:184858400-184859800	Enhancers	Fetal Brain Female	brain
37	chr1:184858400-184860000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:184858400-184860200	Strong transcription	K562	blood
39	chr1:184858400-184860800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:184858600-184860000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:184858600-184860200	Enhancers	Brain Substantia Nigra	brain
42	chr1:184858600-184860200	Enhancers	Osteobl	bone
43	chr1:184858600-184861400	Enhancers	Brain Hippocampus Middle	brain
44	chr1:184858600-184863000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:184858600-184869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:184858800-184859800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:184859000-184859600	Enhancers	Colon Smooth Muscle	Colon
48	chr1:184859000-184859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:184859000-184859800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:184859000-184860000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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