Variant report

Variant	rs539451934
Chromosome Location	chr1:221885165-221885166
allele	C/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	MXI1	chr1:221885057-221886673	IMR90	lung:	n/a	n/a
2	JUN	chr1:221884643-221885189	K562	blood:	n/a	chr1:221884865-221884877
3	JUND	chr1:221885122-221886006	K562	blood:	n/a	chr1:221885750-221885758 chr1:221885746-221885757 chr1:221885748-221885760
4	POLR2A	chr1:221885084-221885437	GM12878	blood:	n/a	n/a
5	RCOR1	chr1:221885101-221885984	K562	blood:	n/a	n/a
6	CEBPB	chr1:221884995-221885188	K562	blood:	n/a	n/a
7	EP300	chr1:221885106-221885990	K562	blood:	n/a	chr1:221885412-221885426

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221870000-221885400	Weak transcription	NHEK	skin
3	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:221873200-221885200	Weak transcription	NH-A	brain
5	chr1:221873800-221885200	Weak transcription	Hela-S3	cervix
6	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
7	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
8	chr1:221878000-221885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:221879600-221886200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
12	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
13	chr1:221879800-221885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:221879800-221886200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:221879800-221886400	Weak transcription	Spleen	Spleen
16	chr1:221879800-221887000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
19	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
22	chr1:221880000-221886200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:221880000-221886200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:221880200-221885400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:221880200-221885600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:221880200-221886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:221880200-221886400	Weak transcription	Aorta	Aorta
29	chr1:221880200-221889200	Weak transcription	Right Atrium	heart
30	chr1:221880400-221885800	Enhancers	Primary T cells from cord blood	blood
31	chr1:221880400-221886000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:221880400-221886200	Enhancers	Dnd41	blood
33	chr1:221880400-221886600	Enhancers	Brain Anterior Caudate	brain
34	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:221880800-221887600	Enhancers	Liver	Liver
36	chr1:221881000-221888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:221881400-221885800	Enhancers	Stomach Mucosa	stomach
38	chr1:221881400-221886600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:221881400-221886800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:221881400-221887400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:221881400-221888200	Enhancers	HepG2	liver
42	chr1:221881600-221885400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:221881600-221886200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:221881800-221888600	Weak transcription	Placenta	Placenta
45	chr1:221882200-221885200	Genic enhancers	GM12878-XiMat	blood
46	chr1:221882200-221885200	Weak transcription	Osteobl	bone
47	chr1:221882200-221886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:221882400-221885400	Enhancers	Psoas Muscle	Psoas
49	chr1:221882400-221886400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:221882400-221886600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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