Variant report

Variant	rs74124678
Chromosome Location	chr1:161197889-161197890
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	SPI1	chr1:161197118-161197928	GM12878	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
2	CTCF	chr1:161197027-161197890	A549	lung:	n/a	chr1:161197324-161197337 chr1:161197324-161197337 chr1:161197321-161197339 chr1:161197324-161197333 chr1:161197323-161197344 chr1:161197322-161197338 chr1:161197326-161197336
3	SMC3	chr1:161196264-161198036	SK-N-SH	brain:	n/a	chr1:161197323-161197337 chr1:161197327-161197337
4	SPI1	chr1:161197113-161197971	HL-60	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
5	CTCF	chr1:161197800-161197950	HVMF	connective:	n/a	n/a
6	CTCF	chr1:161196501-161197910	SK-N-SH	brain:	n/a	chr1:161197324-161197337 chr1:161197324-161197337 chr1:161197321-161197339 chr1:161197324-161197333 chr1:161197323-161197344 chr1:161197322-161197338 chr1:161197326-161197336
7	RAD21	chr1:161196607-161197912	SK-N-SH	brain:	n/a	chr1:161197327-161197339 chr1:161197322-161197341 chr1:161197327-161197337
8	SPI1	chr1:161197276-161197892	HL-60	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
9	YY1	chr1:161197861-161198115	K562	blood:	n/a	chr1:161198062-161198082

No.	Distal block	Cell Line	Cell type
1	chr1:161184335..161187137-chr1:161197763..161199815,2	MCF-7	breast:
2	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
3	chr1:161166482..161168159-chr1:161197739..161199881,2	MCF-7	breast:
4	chr1:161194282..161198259-chr1:161282397..161284753,4	MCF-7	breast:
5	chr1:161197547..161200188-chr1:161200868..161203304,3	MCF-7	breast:
6	chr1:161192147..161195116-chr1:161197570..161199818,2	MCF-7	breast:
7	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
8	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:
9	chr1:161195862..161198260-chr1:161276077..161278142,2	K562	blood:
10	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:
11	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:

Variant related genes	Relation type
TOMM40L	TF binding region
APOA2	TF binding region
ENSG00000158869	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158874	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34887199	0.83[AFR][1000 genomes]
rs74124676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161195800-161198000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr1:161195800-161198200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:161195800-161198400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:161196400-161198000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:161196400-161198400	Weak transcription	Aorta	Aorta
6	chr1:161196400-161207800	Weak transcription	Small Intestine	intestine
7	chr1:161196600-161198000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:161196600-161198200	Enhancers	Fetal Thymus	thymus
9	chr1:161196600-161199400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:161197200-161198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:161197200-161198000	Enhancers	Colonic Mucosa	Colon
12	chr1:161197200-161198200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:161197200-161198200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:161197200-161198200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:161197200-161198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:161197200-161198200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:161197200-161198400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:161197200-161199800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:161197400-161198200	Genic enhancers	Fetal Stomach	stomach
20	chr1:161197400-161198200	Weak transcription	HSMM	muscle
21	chr1:161197600-161198000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:161197600-161198000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:161197600-161198000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:161197600-161198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:161197600-161198000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr1:161197600-161198000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:161197600-161198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:161197600-161198000	Genic enhancers	Adipose Nuclei	Adipose
29	chr1:161197600-161198000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:161197600-161198000	Enhancers	Fetal Heart	heart
31	chr1:161197600-161198000	Enhancers	Psoas Muscle	Psoas
32	chr1:161197600-161198000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:161197600-161198000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
34	chr1:161197600-161198000	Enhancers	Spleen	Spleen
35	chr1:161197600-161198000	Enhancers	HMEC	breast
36	chr1:161197600-161198000	Transcr. at gene 5' and 3'	NHEK	skin
37	chr1:161197600-161198000	Weak transcription	Osteobl	bone
38	chr1:161197600-161198200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:161197600-161198200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:161197600-161198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:161197600-161198200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:161197600-161198200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:161197600-161198200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
44	chr1:161197600-161198200	Weak transcription	Gastric	stomach
45	chr1:161197600-161198200	Weak transcription	HSMMtube	muscle
46	chr1:161197600-161198400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:161197600-161198400	Weak transcription	Ovary	ovary
48	chr1:161197600-161198400	Weak transcription	Pancreas	Pancrea
49	chr1:161197600-161198400	Weak transcription	NH-A	brain
50	chr1:161197600-161199000	Weak transcription	Placenta Amnion	Placenta Amnion

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