Variant report

Variant	rs17043051
Chromosome Location	chr2:113933804-113933805
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	chr2:113930967-113935020	GM12878	blood:	n/a	n/a
2	YY1	chr2:113933792-113934099	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:113931075-113934128	GM19193	blood:	n/a	n/a
4	EBF1	chr2:113933587-113933998	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:113933418-113934086	GM12892	blood:	n/a	n/a
6	MAZ	chr2:113933732-113933980	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:113930698-113934407	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:113933629-113933979	K562	blood:	n/a	n/a
9	EBF1	chr2:113933521-113933995	GM12878	blood:	n/a	n/a
10	WRNIP1	chr2:113932120-113934523	GM12878	blood:	n/a	n/a
11	ZNF143	chr2:113933671-113934002	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:113930686-113935532	GM12891	blood:	n/a	n/a
13	EBF1	chr2:113933675-113933926	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:113931045-113935205	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:113933575-113933813	GM12878	blood:	n/a	n/a
16	MTA3	chr2:113930698-113933933	GM12878	blood:	n/a	n/a
17	RELA	chr2:113931105-113934060	GM12891	blood:	n/a	chr2:113932382-113932391 chr2:113932382-113932391
18	MXI1	chr2:113932709-113934003	GM12878	blood:	n/a	chr2:113933884-113933893
19	POLR2A	chr2:113933422-113934997	GM12892	blood:	n/a	n/a
20	POLR2A	chr2:113933493-113933908	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113920491..113922506-chr2:113933722..113935359,2	MCF-7	breast:
2	chr2:113933537..113935192-chr2:113956517..113958039,2	MCF-7	breast:
3	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
4	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234174	TF binding region
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10864910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11691876	0.91[ASN][1000 genomes]
rs12614131	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241977	0.80[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61287999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113923000-113956000	Weak transcription	HMEC	breast
4	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:113927600-113936200	Weak transcription	NHEK	skin
6	chr2:113928000-113935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113930200-113935200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:113930400-113934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:113930600-113934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:113930600-113934600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:113930800-113934000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:113930800-113937800	Weak transcription	Pancreas	Pancrea
13	chr2:113931000-113934000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:113931000-113934200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr2:113931000-113934200	Active TSS	Rectal Smooth Muscle	rectum
16	chr2:113931000-113934400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:113931000-113935000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:113931200-113934000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr2:113931200-113934200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:113931400-113936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:113931400-113937800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:113931600-113934200	Active TSS	Colonic Mucosa	Colon
23	chr2:113931600-113934400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:113932000-113934200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr2:113932000-113935200	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr2:113932000-113937600	Weak transcription	Gastric	stomach
27	chr2:113932200-113934000	Flanking Active TSS	Fetal Thymus	thymus
28	chr2:113932400-113934600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr2:113932400-113937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:113932400-113939400	Weak transcription	Fetal Stomach	stomach
31	chr2:113932400-113939600	Enhancers	Placenta	Placenta
32	chr2:113932600-113934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:113932600-113934000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:113932600-113934200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:113932600-113934400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:113932800-113934800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr2:113932800-113935800	Weak transcription	Stomach Mucosa	stomach
38	chr2:113932800-113937600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:113933000-113934600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:113933000-113934800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:113933000-113935000	Enhancers	K562	blood
42	chr2:113933000-113935600	Enhancers	Spleen	Spleen
43	chr2:113933000-113938000	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:113933000-113938800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:113933200-113934800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:113933200-113935400	Bivalent Enhancer	HepG2	liver
47	chr2:113933200-113935600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr2:113933400-113934600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:113933400-113934600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:113933400-113934600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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