Variant report

Variant	rs6754298
Chromosome Location	chr2:113896213-113896214
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113895446..113896605-chr2:113950024..113950747,3	MCF-7	breast:
2	chr2:113895331..113896490-chr2:113956383..113957293,5	MCF-7	breast:
3	chr2:113894569..113897651-chr2:113991647..113995572,3	MCF-7	breast:
4	chr2:113895312..113896612-chr2:113933996..113935124,4	MCF-7	breast:
5	chr2:113895658..113897096-chr2:114147534..114148565,6	K562	blood:
6	chr2:113841554..113842111-chr2:113896078..113896943,2	MCF-7	breast:
7	chr2:113895417..113899830-chr2:113913287..113915798,5	MCF-7	breast:
8	chr2:113896084..113896884-chr2:113957485..113958379,3	MCF-7	breast:
9	chr2:113895680..113896559-chr2:113949788..113950725,3	MCF-7	breast:
10	chr2:113895616..113896425-chr3:173120480..173120980,2	MCF-7	breast:
11	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
12	chr2:113895735..113898572-chr2:113925018..113926554,2	K562	blood:
13	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:
14	chr2:113895684..113896622-chr2:113956462..113957445,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125618	Chromatin interaction
ENSG00000189223	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11123166	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11123167	0.86[EUR][1000 genomes]
rs11885498	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1374281	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2172190	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2264097	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2264098	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2902452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs315943	0.91[CEU][hapmap];0.89[CHB][hapmap];0.80[EUR][1000 genomes]
rs315949	0.95[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs315956	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251961	0.86[CEU][hapmap]
rs62161285	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6750555	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs895496	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113892200-113896600	Weak transcription	Esophagus	oesophagus
2	chr2:113894200-113897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:113894600-113896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:113894800-113896800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:113895600-113897000	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:113895600-113897200	Enhancers	Stomach Mucosa	stomach
8	chr2:113895600-113897400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:113895800-113897000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113895800-113897000	Enhancers	Primary T cells from cord blood	blood
11	chr2:113895800-113897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:113896000-113896400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr2:113896000-113896600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:113896000-113896600	Enhancers	Primary B cells from cord blood	blood
15	chr2:113896000-113896800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:113896000-113896800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:113896000-113897000	Enhancers	HMEC	breast
18	chr2:113896200-113896400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:113896200-113896400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:113896200-113896400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:113896200-113896400	Enhancers	Adipose Nuclei	Adipose
22	chr2:113896200-113896400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:113896200-113896400	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:113896200-113896400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:113896200-113896400	Flanking Active TSS	Dnd41	blood
26	chr2:113896200-113896400	Flanking Active TSS	K562	blood
27	chr2:113896200-113896400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:113896200-113896600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:113896200-113896600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr2:113896200-113896600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr2:113896200-113896600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:113896200-113896600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:113896200-113896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:113896200-113896600	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr2:113896200-113896600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr2:113896200-113896600	Enhancers	Thymus	Thymus
37	chr2:113896200-113896600	Flanking Active TSS	A549	lung
38	chr2:113896200-113896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:113896200-113896800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:113896200-113896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:113896200-113896800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:113896200-113896800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:113896200-113896800	Enhancers	GM12878-XiMat	blood
44	chr2:113896200-113897000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:113896200-113897000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:113896200-113897000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:113896200-113897000	Enhancers	Liver	Liver
48	chr2:113896200-113897000	Enhancers	Colonic Mucosa	Colon
49	chr2:113896200-113897000	Enhancers	Fetal Thymus	thymus
50	chr2:113896200-113897000	Enhancers	Sigmoid Colon	Sigmoid Colon

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