Variant report

Variant	rs73006222
Chromosome Location	chr6:144287713-144287714
allele	C/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	MAFF	chr6:144287442-144287788	K562	blood:	n/a	chr6:144287611-144287629 chr6:144287610-144287624
2	MAFK	chr6:144287457-144287788	IMR90	lung:	n/a	chr6:144287614-144287623 chr6:144287610-144287624 chr6:144287609-144287625 chr6:144287612-144287627 chr6:144287613-144287623 chr6:144287607-144287627
3	MAFK	chr6:144287436-144287783	HepG2	liver:	n/a	chr6:144287614-144287623 chr6:144287610-144287624 chr6:144287609-144287625 chr6:144287612-144287627 chr6:144287613-144287623 chr6:144287607-144287627
4	MAFK	chr6:144287475-144287755	HepG2	liver:	n/a	chr6:144287614-144287623 chr6:144287610-144287624 chr6:144287609-144287625 chr6:144287612-144287627 chr6:144287613-144287623 chr6:144287607-144287627
5	MAFK	chr6:144287431-144287788	K562	blood:	n/a	chr6:144287614-144287623 chr6:144287610-144287624 chr6:144287609-144287625 chr6:144287612-144287627 chr6:144287613-144287623 chr6:144287607-144287627
6	MAFF	chr6:144287486-144287743	HepG2	liver:	n/a	chr6:144287611-144287629 chr6:144287610-144287624

No.	Distal block	Cell Line	Cell type
1	chr6:144286319..144288248-chr6:144317369..144319699,2	K562	blood:
2	chr6:144286646..144289265-chr6:144304089..144305699,2	K562	blood:
3	chr6:143832151..143834228-chr6:144285681..144288374,2	MCF-7	breast:
4	chr6:144286109..144288326-chr6:144291907..144294386,3	K562	blood:

Variant related genes	Relation type
PLAGL1	TF binding region
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12527409	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17615967	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998017	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56211878	0.81[ASN][1000 genomes]
rs7770000	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
2	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
3	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
4	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:144269800-144289800	Weak transcription	Ovary	ovary
6	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
9	chr6:144274400-144289800	Weak transcription	Esophagus	oesophagus
10	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr6:144280200-144290400	Weak transcription	Fetal Heart	heart
13	chr6:144280400-144288200	Weak transcription	Gastric	stomach
14	chr6:144280400-144291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:144280600-144287800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr6:144280800-144287800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr6:144281800-144294800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:144283200-144287800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:144284200-144287800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr6:144284200-144289000	Weak transcription	NHLF	lung
21	chr6:144284600-144288200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr6:144284600-144288400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr6:144284600-144290600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:144284800-144287800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr6:144284800-144294400	Weak transcription	Fetal Brain Male	brain
26	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
27	chr6:144285000-144287800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:144285000-144292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:144285200-144288400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr6:144285200-144289000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:144285400-144291400	Weak transcription	Colonic Mucosa	Colon
32	chr6:144285400-144294200	Weak transcription	Left Ventricle	heart
33	chr6:144285800-144293400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:144286000-144288400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:144286000-144290400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:144286200-144287800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:144286200-144289800	Weak transcription	Right Atrium	heart
38	chr6:144286400-144288200	Weak transcription	Fetal Kidney	kidney
39	chr6:144286400-144288400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:144286400-144288600	Genic enhancers	Placenta	Placenta
41	chr6:144286600-144288200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:144286600-144288200	Enhancers	NHDF-Ad	bronchial
43	chr6:144286600-144290000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:144286800-144289000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:144286800-144290400	Strong transcription	Fetal Intestine Large	intestine
46	chr6:144286800-144294200	Weak transcription	Fetal Brain Female	brain
47	chr6:144287000-144287800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:144287000-144289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:144287000-144290600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:144287000-144293000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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