Variant report

Variant	rs570236275
Chromosome Location	chr1:161161952-161161953
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	CTCF	chr1:161161820-161161970	GM12871	blood:	n/a	n/a
2	CTCF	chr1:161161790-161162896	SK-N-SH	brain:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
3	CTCF	chr1:161161900-161162050	AG10803	skin:	n/a	n/a
4	CTCF	chr1:161161920-161162070	HFF	foreskin:	n/a	n/a
5	RAD21	chr1:161161897-161163099	SK-N-SH	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
6	CTCF	chr1:161161940-161162090	AG04449	skin:	n/a	n/a
7	SMC3	chr1:161161869-161162893	SK-N-SH	brain:	n/a	chr1:161162468-161162482
8	CTCF	chr1:161161880-161162030	BJ	skin:	n/a	n/a
9	CTCF	chr1:161161856-161162894	A549	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484

No.	Distal block	Cell Line	Cell type
1	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
2	chr1:161160904..161162773-chr1:161163879..161166104,2	MCF-7	breast:
3	chr1:161141540..161143132-chr1:161160506..161162338,2	K562	blood:
4	chr1:161161386..161164009-chr1:161188467..161191186,2	MCF-7	breast:
5	chr1:161086324..161088936-chr1:161160817..161162569,2	K562	blood:
6	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
7	chr1:161159692..161162079-chr1:161195568..161198252,2	K562	blood:
8	chr1:161159866..161163748-chr1:161166740..161171576,6	MCF-7	breast:
9	chr1:161160858..161163554-chr1:161335884..161337971,2	MCF-7	breast:
10	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:
11	chr1:161160427..161162959-chr1:161172142..161173737,2	MCF-7	breast:
12	chr1:161159836..161162629-chr1:161171704..161173335,2	MCF-7	breast:
13	chr1:161161591..161163343-chr1:161282376..161284544,2	K562	blood:

Variant related genes	Relation type
NDUFS2	TF binding region
ENSG00000263548	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000235477	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:161148200-161162400	Weak transcription	Liver	Liver
3	chr1:161148200-161162600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:161150600-161162000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:161156000-161162400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
11	chr1:161156200-161163000	Weak transcription	Thymus	Thymus
12	chr1:161156200-161163200	Weak transcription	NHDF-Ad	bronchial
13	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
14	chr1:161156400-161163600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
16	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:161157000-161162400	Weak transcription	Fetal Brain Female	brain
18	chr1:161157400-161162600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:161157400-161162600	Weak transcription	HepG2	liver
20	chr1:161157600-161162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
23	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
24	chr1:161157800-161162000	Weak transcription	K562	blood
25	chr1:161157800-161162400	Weak transcription	GM12878-XiMat	blood
26	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
27	chr1:161159200-161162200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:161159400-161162000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:161159600-161162200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:161159600-161162200	Weak transcription	HUVEC	blood vessel
31	chr1:161159600-161162400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:161159600-161162400	Strong transcription	Fetal Stomach	stomach
33	chr1:161160200-161163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:161160200-161163800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:161160400-161162000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:161160400-161162200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:161160400-161162600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:161160400-161162600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:161160400-161162600	Strong transcription	Osteobl	bone
42	chr1:161160400-161164000	Strong transcription	NHLF	lung
43	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
44	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:161160600-161162000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:161160600-161162000	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:161160600-161162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:161160600-161163000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:161160600-161164000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--

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