Variant report

Variant	rs11627092
Chromosome Location	chr14:35810707-35810708
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35760612..35764048-chr14:35809630..35812978,4	MCF-7	breast:
2	chr14:35757408..35763930-chr14:35809319..35813404,11	MCF-7	breast:
3	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
4	chr14:35765428..35767078-chr14:35809489..35811845,2	MCF-7	breast:
5	chr14:35589885..35593973-chr14:35809162..35812137,5	MCF-7	breast:
6	chr14:35808792..35810743-chr14:35815553..35817945,2	K562	blood:
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	chr14:35810366..35811287-chr4:69770665..69771581,2	MCF-7	breast:
15	chr14:35804902..35807934-chr14:35810651..35813744,3	K562	blood:
16	chr14:35774042..35776362-chr14:35810358..35812429,2	MCF-7	breast:
17	chr14:35793707..35796135-chr14:35808509..35811220,2	MCF-7	breast:

No data

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11620737	0.80[AFR][1000 genomes]
rs11623882	0.80[AFR][1000 genomes]
rs11624462	0.80[AFR][1000 genomes]
rs11627958	0.80[AFR][1000 genomes]
rs1475041	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17458312	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1963154	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4432181	0.80[AFR][1000 genomes]
rs4982263	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4982264	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4982266	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55693281	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56380926	0.80[AFR][1000 genomes]
rs61988266	0.80[AFR][1000 genomes]
rs61988267	0.80[AFR][1000 genomes]
rs61988269	0.90[AFR][1000 genomes]
rs61988270	0.90[AFR][1000 genomes]
rs61988271	0.90[AFR][1000 genomes]
rs61988276	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61989543	0.80[AFR][1000 genomes]
rs61989545	0.80[AFR][1000 genomes]
rs61989546	0.80[AFR][1000 genomes]
rs61989547	0.80[AFR][1000 genomes]
rs6571713	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6571714	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7153434	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7155760	0.80[AFR][1000 genomes]
rs7158151	0.90[AFR][1000 genomes]
rs8013647	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018597	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8021880	0.80[AFR][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:118 , 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	chr14:35804600-35810800	Enhancers	Esophagus	oesophagus
6	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:35806200-35812400	Enhancers	Ovary	ovary
8	chr14:35806400-35810800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:35807000-35810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:35808000-35813800	Enhancers	Spleen	Spleen
14	chr14:35808200-35810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:35808200-35814400	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:35808400-35811600	Enhancers	Gastric	stomach
17	chr14:35808400-35812000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:35808400-35812200	Enhancers	Fetal Intestine Large	intestine
19	chr14:35808400-35812200	Enhancers	Fetal Stomach	stomach
20	chr14:35808600-35811600	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:35808600-35811800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:35808600-35812000	Enhancers	Primary T cells from cord blood	blood
23	chr14:35808800-35811000	Enhancers	Right Ventricle	heart
24	chr14:35808800-35811000	Enhancers	Stomach Mucosa	stomach
25	chr14:35808800-35811000	Enhancers	HSMM	muscle
26	chr14:35808800-35812000	Enhancers	Small Intestine	intestine
27	chr14:35808800-35812200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:35808800-35812200	Enhancers	Pancreas	Pancrea
29	chr14:35809000-35811200	Enhancers	HSMMtube	muscle
30	chr14:35809000-35813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:35809000-35813800	Enhancers	Fetal Muscle Leg	muscle
32	chr14:35809200-35811400	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:35809400-35811800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:35809400-35814400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:35809600-35810800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:35809600-35811400	Enhancers	Primary B cells from cord blood	blood
37	chr14:35809600-35811400	Enhancers	Fetal Lung	lung
38	chr14:35809800-35810800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:35809800-35812000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:35810000-35810800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:35810000-35811200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:35810000-35811200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:35810000-35812000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:35810000-35812200	Enhancers	Fetal Heart	heart
45	chr14:35810000-35812200	Enhancers	NHLF	lung
46	chr14:35810000-35812400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:35810200-35810800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:35810200-35810800	Enhancers	Brain Germinal Matrix	brain
49	chr14:35810200-35810800	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr14:35810200-35811000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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