Variant report

Variant	rs549061685
Chromosome Location	chr1:10230813-10230814
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	CEBPB	chr1:10230074-10230863	GM12878	blood:	n/a	n/a
2	FOXA2	chr1:10230461-10231842	HepG2	liver:	n/a	n/a
3	NFATC1	chr1:10230074-10230820	GM12878	blood:	n/a	n/a
4	RUNX3	chr1:10230107-10230822	GM12878	blood:	n/a	n/a
5	TCF7L2	chr1:10230622-10231500	HepG2	liver:	n/a	n/a
6	PML	chr1:10229978-10230823	GM12878	blood:	n/a	n/a
7	ARID3A	chr1:10230536-10231522	HepG2	liver:	n/a	chr1:10230903-10230919 chr1:10230904-10230920
8	NFIC	chr1:10230052-10230951	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UBE4B	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2562286	chr1:10230395-10231752	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
6	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
8	chr1:10201600-10231200	Weak transcription	HMEC	breast
9	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
10	chr1:10213200-10231000	Weak transcription	A549	lung
11	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
16	chr1:10218000-10234600	Strong transcription	Liver	Liver
17	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:10219800-10234000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:10220000-10233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
24	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:10222000-10236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:10222200-10236400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:10223000-10235000	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:10223000-10237800	Weak transcription	Psoas Muscle	Psoas
29	chr1:10224400-10233400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:10224400-10233400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr1:10224400-10235000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:10224400-10235600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:10224400-10236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:10224800-10234200	Strong transcription	Fetal Brain Female	brain
35	chr1:10224800-10236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:10225800-10231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:10226000-10232600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:10226000-10232600	Weak transcription	Fetal Heart	heart
39	chr1:10226400-10231200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:10226400-10231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:10226400-10238800	Weak transcription	NHEK	skin
42	chr1:10226600-10231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:10226600-10232600	Weak transcription	NH-A	brain
44	chr1:10227400-10235800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:10227600-10233200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:10227600-10233400	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:10227600-10233400	Strong transcription	Left Ventricle	heart
48	chr1:10227600-10234000	Strong transcription	Brain Substantia Nigra	brain
49	chr1:10227600-10234000	Strong transcription	Fetal Thymus	thymus
50	chr1:10227600-10235400	Strong transcription	Brain Cingulate Gyrus	brain

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