Variant report

Variant	rs34009675
Chromosome Location	chr1:161165424-161165425
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	chr1:161165340-161165490	GM12866	blood:	n/a	n/a
2	MTA3	chr1:161164859-161165608	GM12878	blood:	n/a	n/a
3	CHD2	chr1:161165038-161165528	GM12878	blood:	n/a	n/a
4	SPI1	chr1:161164615-161165516	GM12878	blood:	n/a	chr1:161165186-161165195 chr1:161165138-161165145 chr1:161165085-161165094

No.	Distal block	Cell Line	Cell type
1	chr1:161122537..161125148-chr1:161162988..161165474,2	K562	blood:
2	chr1:161165177..161166980-chr1:161171172..161173664,3	MCF-7	breast:
3	chr1:161163988..161166872-chr1:161195366..161197784,2	K562	blood:
4	chr1:161162532..161167192-chr1:161195273..161197784,4	K562	blood:

Variant related genes	Relation type
NDUFS2	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000263548	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12092166	1.00[AMR][1000 genomes]
rs17175512	1.00[AMR][1000 genomes]
rs2502816	0.86[ASN][1000 genomes]
rs34618415	1.00[AMR][1000 genomes]
rs35709078	1.00[AMR][1000 genomes]

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:107 , 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	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
6	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
7	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
8	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
9	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
10	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:161160800-161166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:161161000-161166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:161161600-161166000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:161161800-161166000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:161161800-161166200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:161161800-161166400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:161161800-161166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:161161800-161166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:161161800-161166600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:161162000-161165800	Enhancers	Primary T cells from cord blood	blood
23	chr1:161162000-161166800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:161162200-161166400	Enhancers	Primary B cells from cord blood	blood
25	chr1:161162400-161166600	Genic enhancers	Fetal Stomach	stomach
26	chr1:161162600-161165600	Genic enhancers	HSMMtube	muscle
27	chr1:161162600-161166000	Weak transcription	Osteobl	bone
28	chr1:161162800-161166400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:161162800-161166400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:161162800-161167000	Weak transcription	Fetal Kidney	kidney
31	chr1:161162800-161168400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:161163000-161166200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:161163000-161166200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:161163000-161166400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:161163000-161166400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:161163000-161166600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:161163000-161166600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:161163000-161166800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:161163000-161168200	Weak transcription	Fetal Brain Male	brain
40	chr1:161163000-161169400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:161163200-161166200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
42	chr1:161163200-161166400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:161163200-161166600	Weak transcription	K562	blood
44	chr1:161163200-161168000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:161163400-161166800	Enhancers	HUVEC	blood vessel
46	chr1:161163600-161167400	Weak transcription	Brain Germinal Matrix	brain
47	chr1:161163800-161166600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:161163800-161167000	Weak transcription	HepG2	liver
49	chr1:161164000-161166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161164000-161166000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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