Variant report

Variant	rs74124676
Chromosome Location	chr1:161197788-161197789
allele	A/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	SPI1	chr1:161197234-161197833	GM12891	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
2	SPI1	chr1:161197118-161197928	GM12878	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
3	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
4	SMC3	chr1:161196264-161198036	SK-N-SH	brain:	n/a	chr1:161197323-161197337 chr1:161197327-161197337
5	POLR2A	chr1:161197422-161197801	HUVEC	blood vessel:	n/a	n/a
6	RAD21	chr1:161196839-161197812	HCT-116	colon:	n/a	chr1:161197327-161197339 chr1:161197322-161197341 chr1:161197327-161197337
7	POLR2A	chr1:161197183-161197813	HL-60	blood:	n/a	n/a
8	SPI1	chr1:161197113-161197971	HL-60	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
9	SPI1	chr1:161197295-161197797	GM12891	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
10	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
11	CTCF	chr1:161197640-161197790	GM12871	blood:	n/a	n/a
12	CTCF	chr1:161197640-161197790	HCFaa	heart:	n/a	n/a
13	POLR2A	chr1:161197775-161197794	HepG2	liver:	n/a	n/a
14	RAD21	chr1:161196607-161197912	SK-N-SH	brain:	n/a	chr1:161197327-161197339 chr1:161197322-161197341 chr1:161197327-161197337
15	ELF1	chr1:161197154-161197825	MCF-7	breast:	n/a	chr1:161197559-161197572 chr1:161197561-161197572
16	SPI1	chr1:161197276-161197892	HL-60	blood:	n/a	chr1:161197560-161197573 chr1:161197560-161197573 chr1:161197559-161197572 chr1:161197562-161197569 chr1:161197561-161197570
17	POLR2A	chr1:161195875-161197829	K562	blood:	n/a	n/a

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	chr1:161194302..161197797-chr1:161367692..161371264,4	K562	blood:
7	chr1:161192147..161195116-chr1:161197570..161199818,2	MCF-7	breast:
8	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
9	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:
10	chr1:161195862..161198260-chr1:161276077..161278142,2	K562	blood:
11	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:
12	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:

Variant related genes	Relation type
TOMM40L	TF binding region
APOA2	TF binding region
ENSG00000206921	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158869	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000143257	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]
rs74124678	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	chr1:161195800-161197800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr1:161195800-161197800	Flanking Active TSS	Liver	Liver
3	chr1:161195800-161198000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:161195800-161198200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:161195800-161198400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:161196000-161197800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:161196200-161197800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:161196200-161197800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:161196200-161197800	Flanking Active TSS	HUVEC	blood vessel
10	chr1:161196400-161197800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:161196400-161197800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:161196400-161197800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:161196400-161197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:161196400-161197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:161196400-161197800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:161196400-161197800	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr1:161196400-161197800	Flanking Active TSS	GM12878-XiMat	blood
18	chr1:161196400-161198000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:161196400-161198400	Weak transcription	Aorta	Aorta
20	chr1:161196400-161207800	Weak transcription	Small Intestine	intestine
21	chr1:161196600-161197800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:161196600-161197800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:161196600-161197800	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr1:161196600-161197800	Enhancers	Esophagus	oesophagus
25	chr1:161196600-161197800	Enhancers	Lung	lung
26	chr1:161196600-161197800	Enhancers	Stomach Mucosa	stomach
27	chr1:161196600-161198000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:161196600-161198200	Enhancers	Fetal Thymus	thymus
29	chr1:161196600-161199400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:161196800-161197800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:161197000-161197800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:161197000-161197800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:161197200-161197800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:161197200-161197800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:161197200-161197800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:161197200-161197800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr1:161197200-161197800	Weak transcription	Fetal Lung	lung
38	chr1:161197200-161197800	Enhancers	A549	lung
39	chr1:161197200-161198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:161197200-161198000	Enhancers	Colonic Mucosa	Colon
41	chr1:161197200-161198200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:161197200-161198200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:161197200-161198200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:161197200-161198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:161197200-161198200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:161197200-161198400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:161197200-161199800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:161197400-161197800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:161197400-161197800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:161197400-161197800	Flanking Active TSS	Primary B cells from peripheral blood	blood

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