Variant report

Variant	rs6571712
Chromosome Location	chr14:35810962-35810963
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35760612..35764048-chr14:35809630..35812978,4	MCF-7	breast:
2	chr1:235242161..235244380-chr14:35810854..35813654,2	MCF-7	breast:
3	chr14:35757408..35763930-chr14:35809319..35813404,11	MCF-7	breast:
4	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
5	chr14:35765428..35767078-chr14:35809489..35811845,2	MCF-7	breast:
6	chr14:35589885..35593973-chr14:35809162..35812137,5	MCF-7	breast:
7	chr14:35515127..35516753-chr14:35810234..35812265,2	MCF-7	breast:
8	chr14:35592944..35595456-chr14:35809160..35811582,2	K562	blood:
9	chr14:35681682..35685352-chr14:35808762..35812906,3	MCF-7	breast:
10	chr14:35772058..35774272-chr14:35810527..35812254,2	MCF-7	breast:
11	chr14:35698922..35700571-chr14:35810245..35812248,2	MCF-7	breast:
12	chr14:35500902..35503626-chr14:35810015..35811675,2	MCF-7	breast:
13	chr14:35790365..35792681-chr14:35809651..35811760,2	MCF-7	breast:
14	chr14:35810790..35811847-chr14:35873610..35874301,3	MCF-7	breast:
15	chr14:35810366..35811287-chr4:69770665..69771581,2	MCF-7	breast:
16	chr14:35804902..35807934-chr14:35810651..35813744,3	K562	blood:
17	chr14:35774042..35776362-chr14:35810358..35812429,2	MCF-7	breast:
18	chr14:35793707..35796135-chr14:35808509..35811220,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151327	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000092020	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12884496	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957107	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34031432	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34109477	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149937	0.81[ASN][1000 genomes]
rs7160625	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009707	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
4	chr14:35800800-35813800	Enhancers	Lung	lung
5	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:35806200-35812400	Enhancers	Ovary	ovary
7	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:35808000-35813800	Enhancers	Spleen	Spleen
11	chr14:35808200-35814400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:35808400-35811600	Enhancers	Gastric	stomach
13	chr14:35808400-35812000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:35808400-35812200	Enhancers	Fetal Intestine Large	intestine
15	chr14:35808400-35812200	Enhancers	Fetal Stomach	stomach
16	chr14:35808600-35811600	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:35808600-35811800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:35808600-35812000	Enhancers	Primary T cells from cord blood	blood
19	chr14:35808800-35811000	Enhancers	Right Ventricle	heart
20	chr14:35808800-35811000	Enhancers	Stomach Mucosa	stomach
21	chr14:35808800-35811000	Enhancers	HSMM	muscle
22	chr14:35808800-35812000	Enhancers	Small Intestine	intestine
23	chr14:35808800-35812200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:35808800-35812200	Enhancers	Pancreas	Pancrea
25	chr14:35809000-35811200	Enhancers	HSMMtube	muscle
26	chr14:35809000-35813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:35809000-35813800	Enhancers	Fetal Muscle Leg	muscle
28	chr14:35809200-35811400	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:35809400-35811800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:35809400-35814400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:35809600-35811400	Enhancers	Primary B cells from cord blood	blood
32	chr14:35809600-35811400	Enhancers	Fetal Lung	lung
33	chr14:35809800-35812000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:35810000-35811200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:35810000-35811200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:35810000-35812000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:35810000-35812200	Enhancers	Fetal Heart	heart
38	chr14:35810000-35812200	Enhancers	NHLF	lung
39	chr14:35810000-35812400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr14:35810200-35811000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:35810200-35811000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:35810200-35811000	Enhancers	Fetal Kidney	kidney
43	chr14:35810200-35811000	Enhancers	Right Atrium	heart
44	chr14:35810200-35811200	Enhancers	Aorta	Aorta
45	chr14:35810200-35811200	Enhancers	Left Ventricle	heart
46	chr14:35810200-35811400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:35810200-35811400	Enhancers	Brain Angular Gyrus	brain
48	chr14:35810200-35811600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:35810200-35811600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:35810200-35811600	Enhancers	HUVEC	blood vessel

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