Variant report

Variant	rs539318201
Chromosome Location	chr1:161162809-161162810
allele	C/T
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	chr1:161161790-161162896	SK-N-SH	brain:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
2	CTCF	chr1:161162680-161162830	HepG2	liver:	n/a	n/a
3	RAD21	chr1:161162009-161162835	HCT-116	colon:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
4	RAD21	chr1:161161897-161163099	SK-N-SH	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
5	REST	chr1:161162147-161163100	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr1:161162740-161162890	AG10803	skin:	n/a	n/a
7	SMC3	chr1:161161869-161162893	SK-N-SH	brain:	n/a	chr1:161162468-161162482
8	CTCF	chr1:161162203-161162867	HCT-116	colon:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
9	CTCF	chr1:161162680-161162830	K562	blood:	n/a	n/a
10	ZNF263	chr1:161162286-161162835	HEK293-T-REx	kidney:	n/a	n/a
11	MAZ	chr1:161162189-161163178	IMR90	lung:	n/a	n/a
12	CTCF	chr1:161161856-161162894	A549	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
13	CTCF	chr1:161162660-161162810	AG04449	skin:	n/a	n/a
14	RAD21	chr1:161162049-161162832	HCT-116	colon:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484

No.	Distal block	Cell Line	Cell type
1	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
2	chr1:161161386..161164009-chr1:161188467..161191186,2	MCF-7	breast:
3	chr1:161162284..161164231-chr1:161350285..161353157,2	MCF-7	breast:
4	chr1:161162448..161162950-chr1:161179543..161180226,2	K562	blood:
5	chr1:161162435..161162964-chr1:161195082..161195632,2	K562	blood:
6	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
7	chr1:161162295..161163089-chr1:161179309..161179869,2	MCF-7	breast:
8	chr1:161162532..161167192-chr1:161195273..161197784,4	K562	blood:
9	chr1:161159866..161163748-chr1:161166740..161171576,6	MCF-7	breast:
10	chr1:161160858..161163554-chr1:161335884..161337971,2	MCF-7	breast:
11	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:
12	chr1:161162222..161163044-chr1:161179334..161180230,2	MCF-7	breast:
13	chr1:161162001..161162966-chr1:161195045..161195904,3	MCF-7	breast:
14	chr1:161160427..161162959-chr1:161172142..161173737,2	MCF-7	breast:
15	chr1:161161591..161163343-chr1:161282376..161284544,2	K562	blood:

Variant related genes	Relation type
NDUFS2	TF binding region
ENSG00000263548	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000158882	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:109 , 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	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
7	chr1:161156200-161163000	Weak transcription	Thymus	Thymus
8	chr1:161156200-161163200	Weak transcription	NHDF-Ad	bronchial
9	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
10	chr1:161156400-161163600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
12	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
15	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
16	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
17	chr1:161160200-161163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:161160200-161163800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:161160400-161164000	Strong transcription	NHLF	lung
22	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
23	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:161160600-161163000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:161160600-161164000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:161160800-161166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:161161000-161163400	Genic enhancers	Brain Cingulate Gyrus	brain
29	chr1:161161000-161165400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr1:161161000-161166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:161161400-161163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:161161400-161163000	Weak transcription	Lung	lung
33	chr1:161161400-161165200	Genic enhancers	Brain Anterior Caudate	brain
34	chr1:161161600-161163000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:161161600-161163000	Weak transcription	Ovary	ovary
36	chr1:161161600-161163200	Genic enhancers	Adipose Nuclei	Adipose
37	chr1:161161600-161166000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:161161800-161163200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:161161800-161163200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:161161800-161163600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:161161800-161163600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:161161800-161164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:161161800-161166000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:161161800-161166200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:161161800-161166400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:161161800-161166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:161161800-161166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:161161800-161166600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:161162000-161163000	Weak transcription	Left Ventricle	heart
50	chr1:161162000-161163200	Enhancers	K562	blood

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