Variant report

Variant	rs278143
Chromosome Location	chr12:120109014-120109015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:120108867-120109276	K562	blood:	n/a	n/a
2	IRF1	chr12:120108805-120109119	K562	blood:	n/a	n/a
3	EBF1	chr12:120108179-120109513	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120105619..120107255-chr12:120108112..120109859,2	MCF-7	breast:
2	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:

Variant related genes	Relation type
PRKAB1	TF binding region
ENSG00000248636	TF binding region
ENSG00000248636	Chromatin interaction
ENSG00000111725	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10774503	0.84[CEU][hapmap]
rs10849688	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849690	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064873	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175878	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978107	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978108	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278123	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278126	0.83[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278144	1.00[CEU][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278145	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278147	1.00[CEU][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278148	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278149	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278151	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278152	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278154	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278155	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930004	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4213	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490266	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490267	0.92[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	0.88[CEU][hapmap]
rs7304996	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310266	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311779	0.84[CEU][hapmap]
rs7312321	0.88[CEU][hapmap]
rs7960723	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963248	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967558	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972600	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979627	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804667	0.83[CEU][hapmap];1.00[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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120106400-120109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:120106400-120111800	Weak transcription	Ovary	ovary
3	chr12:120106600-120109200	Weak transcription	Lung	lung
4	chr12:120106600-120109400	Weak transcription	Aorta	Aorta
5	chr12:120106600-120109800	Weak transcription	Gastric	stomach
6	chr12:120106600-120110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:120106800-120109400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:120106800-120109400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:120106800-120109400	Weak transcription	Fetal Lung	lung
10	chr12:120106800-120109400	Weak transcription	HSMMtube	muscle
11	chr12:120106800-120110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:120106800-120110400	Weak transcription	NH-A	brain
13	chr12:120106800-120111800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120106800-120116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120107400-120109600	Enhancers	Stomach Mucosa	stomach
16	chr12:120107400-120116400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:120107400-120120400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120107600-120109400	Weak transcription	Esophagus	oesophagus
19	chr12:120107600-120110000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:120107600-120110200	Enhancers	Small Intestine	intestine
21	chr12:120107600-120110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:120107600-120112400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:120107600-120112600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:120107600-120116000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:120107600-120116200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:120107800-120109400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr12:120107800-120109400	Weak transcription	Pancreas	Pancrea
28	chr12:120107800-120110600	Transcr. at gene 5' and 3'	K562	blood
29	chr12:120107800-120110800	Strong transcription	Placenta	Placenta
30	chr12:120107800-120111800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:120107800-120112600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:120107800-120116400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:120107800-120116400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:120107800-120119000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:120107800-120120200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:120107800-120120200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:120107800-120120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:120108000-120109200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:120108000-120109200	Weak transcription	Fetal Stomach	stomach
40	chr12:120108000-120109200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr12:120108000-120109400	Weak transcription	Left Ventricle	heart
42	chr12:120108000-120109600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:120108000-120109800	Weak transcription	NHDF-Ad	bronchial
44	chr12:120108000-120110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:120108000-120110600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:120108000-120111000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:120108000-120119600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:120108000-120120600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:120108200-120109200	Enhancers	Fetal Intestine Small	intestine
50	chr12:120108200-120109200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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