Variant report

Variant	rs8007131
Chromosome Location	chr14:71221523-71221524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:71221483-71222314	A549	lung:	n/a	n/a
2	TCF12	chr14:71221412-71222583	ECC-1	luminal epithelium:	n/a	n/a
3	SP1	chr14:71221445-71222268	A549	lung:	n/a	n/a
4	NFIC	chr14:71221412-71222422	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr14:71221491-71222379	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr14:71221520-71222851	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr14:71221496-71222267	A549	lung:	n/a	n/a
8	TCF12	chr14:71221493-71222168	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr14:71221483-71222353	A549	lung:	n/a	n/a
10	MAX	chr14:71221408-71222425	A549	lung:	n/a	n/a
11	NFIC	chr14:71221453-71222370	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr14:71221421-71222504	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71221250..71224192-chr14:71276370..71280201,4	MCF-7	breast:
2	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
3	chr14:71189314..71191908-chr14:71220289..71222021,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000259153	Chromatin interaction
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1034769	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873242	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12589737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1476610	0.85[AFR][1000 genomes]
rs2023955	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2107665	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2107666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2332455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2332458	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141095	0.85[AFR][1000 genomes]
rs4899368	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899369	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902844	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4902852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902863	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6573978	0.85[AFR][1000 genomes]
rs6573980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152516	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155910	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8011507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8018294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
3	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
5	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
6	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:71200600-71224200	Weak transcription	Spleen	Spleen
10	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
11	chr14:71204800-71229400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
13	chr14:71207000-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:71207000-71221800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:71209200-71229400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:71209400-71221600	Weak transcription	Esophagus	oesophagus
17	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
18	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:71209600-71229000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:71214400-71222000	Weak transcription	Psoas Muscle	Psoas
23	chr14:71215600-71221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:71215600-71227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71215600-71227400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:71215800-71222000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:71215800-71227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:71215800-71232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:71216200-71226800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:71216400-71221800	Weak transcription	Fetal Brain Female	brain
31	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:71216600-71222200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:71216600-71224600	Weak transcription	Placenta	Placenta
34	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:71216800-71222000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:71216800-71225600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:71216800-71226400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:71217000-71222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:71217200-71221800	Weak transcription	Primary B cells from cord blood	blood
41	chr14:71219000-71223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:71219200-71222400	Enhancers	Stomach Mucosa	stomach
43	chr14:71219800-71221600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:71219800-71222000	Weak transcription	GM12878-XiMat	blood
45	chr14:71220000-71221600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:71220000-71221600	Weak transcription	Gastric	stomach
47	chr14:71220000-71221600	Weak transcription	Dnd41	blood
48	chr14:71220000-71222000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:71220200-71221800	Genic enhancers	NHEK	skin
50	chr14:71220200-71222200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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