Variant report

Variant	rs17034163
Chromosome Location	chr2:99220893-99220894
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	POLR2A	chr2:99220849-99221102	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr2:99220750-99221951	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr2:99220877-99221613	ECC-1	luminal epithelium:	n/a	chr2:99221280-99221296 chr2:99221280-99221297

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99220491..99222361-chr2:99223823..99225591,2	MCF-7	breast:
2	chr2:99219237..99221017-chr2:99222834..99226199,5	K562	blood:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
5	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:99211000-99221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:99212200-99222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:99212600-99221400	Strong transcription	Liver	Liver
10	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:99213000-99222400	Strong transcription	Primary B cells from cord blood	blood
12	chr2:99213000-99222600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
14	chr2:99213200-99221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:99213200-99221400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:99213800-99221000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:99214000-99221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:99214200-99223000	Weak transcription	Fetal Brain Male	brain
20	chr2:99214400-99222600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:99214800-99222600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:99216800-99222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:99217000-99221200	Weak transcription	HMEC	breast
25	chr2:99217000-99221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:99217000-99223400	Weak transcription	A549	lung
27	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:99217200-99221000	Weak transcription	HSMMtube	muscle
29	chr2:99217200-99221800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:99217400-99223000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:99217400-99223000	Weak transcription	Osteobl	bone
34	chr2:99217400-99223600	Weak transcription	NH-A	brain
35	chr2:99217600-99222400	Weak transcription	Small Intestine	intestine
36	chr2:99217600-99222600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:99218400-99221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:99218400-99221200	Weak transcription	Fetal Lung	lung
39	chr2:99218400-99221600	Weak transcription	NHEK	skin
40	chr2:99218400-99222400	Weak transcription	Aorta	Aorta
41	chr2:99218400-99222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:99218400-99222600	Weak transcription	Gastric	stomach
43	chr2:99218400-99222600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:99218400-99222600	Weak transcription	Spleen	Spleen
45	chr2:99218400-99222800	Weak transcription	Esophagus	oesophagus
46	chr2:99218400-99222800	Weak transcription	Pancreas	Pancrea
47	chr2:99218400-99223400	Weak transcription	NHLF	lung
48	chr2:99218600-99221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:99218600-99221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:99218600-99221800	Weak transcription	Brain Hippocampus Middle	brain

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