Variant report

Variant	rs10140180
Chromosome Location	chr14:35779071-35779072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35777000..35779255-chr14:35781790..35784953,3	K562	blood:
2	chr14:35778204..35779930-chr14:35870130..35871675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10135636	0.84[EUR][1000 genomes]
rs10140819	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10141237	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142113	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10144186	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458583	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597267	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597281	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2277460	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461608	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522717	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28714617	0.81[EUR][1000 genomes]
rs4982257	0.83[EUR][1000 genomes]
rs60707741	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7140912	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012896	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017330	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017676	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806058	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
2	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:35765400-35779400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:35765400-35782400	Weak transcription	K562	blood
8	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:35767200-35779600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:35769200-35780600	Weak transcription	NHDF-Ad	bronchial
11	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:35770200-35779400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:35771600-35779400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:35771600-35786800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:35772400-35788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
18	chr14:35772600-35789000	Strong transcription	HepG2	liver
19	chr14:35772800-35788200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:35773000-35779200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:35773000-35782200	Weak transcription	Small Intestine	intestine
22	chr14:35773200-35782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:35773400-35789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
25	chr14:35774600-35779600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:35774600-35784200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:35774600-35789400	Strong transcription	Dnd41	blood
28	chr14:35774800-35779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:35775000-35779800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:35775000-35789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:35775200-35783800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:35775800-35785400	Strong transcription	A549	lung
34	chr14:35775800-35789200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:35776400-35789000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:35776400-35789000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:35776600-35784200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:35776600-35788800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr14:35776600-35789000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:35776800-35780200	Strong transcription	Thymus	Thymus
41	chr14:35776800-35780600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:35776800-35784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35776800-35784600	Weak transcription	Pancreas	Pancrea
44	chr14:35776800-35788400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:35776800-35788600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:35776800-35789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:35777000-35780600	Strong transcription	NHEK	skin
48	chr14:35777000-35780800	Strong transcription	Primary T cells from cord blood	blood
49	chr14:35777000-35788200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:35777000-35788200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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