Variant report

Variant	rs13218225
Chromosome Location	chr6:144291150-144291151
allele	G/T
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	GATA1	chr6:144290240-144291233	PBDE	blood:	n/a	chr6:144291032-144291039 chr6:144291030-144291040 chr6:144291032-144291042 chr6:144291140-144291150
2	TEAD4	chr6:144290887-144291197	K562	blood:	n/a	n/a
3	CUX1	chr6:144291000-144291354	K562	blood:	n/a	n/a
4	ZNF384	chr6:144290876-144291152	K562	blood:	n/a	n/a
5	TAL1	chr6:144290842-144291155	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144291074..144293764-chr6:144327340..144330897,3	K562	blood:
2	chr6:144281173..144283834-chr6:144290896..144293315,2	K562	blood:

Variant related genes	Relation type
PLAGL1	TF binding region
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7770529	1.00[YRI][hapmap]
rs9321953	1.00[YRI][hapmap]
rs9403540	1.00[YRI][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr6:144280400-144291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:144281800-144294800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:144284800-144294400	Weak transcription	Fetal Brain Male	brain
10	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
11	chr6:144285000-144292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:144285400-144291400	Weak transcription	Colonic Mucosa	Colon
13	chr6:144285400-144294200	Weak transcription	Left Ventricle	heart
14	chr6:144285800-144293400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:144286800-144294200	Weak transcription	Fetal Brain Female	brain
16	chr6:144287000-144293000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:144287000-144294400	Weak transcription	Lung	lung
18	chr6:144287000-144294800	Weak transcription	Spleen	Spleen
19	chr6:144287000-144298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:144287200-144293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:144287200-144293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:144287200-144293400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:144287400-144294600	Enhancers	Adipose Nuclei	Adipose
24	chr6:144287600-144297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:144287800-144292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:144288200-144293400	Weak transcription	NHDF-Ad	bronchial
27	chr6:144288400-144314800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:144289000-144291800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:144289000-144295000	Enhancers	Fetal Lung	lung
30	chr6:144289000-144301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:144289200-144293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:144289400-144294200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:144289800-144291200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:144289800-144291200	Enhancers	Ovary	ovary
35	chr6:144289800-144292400	Enhancers	K562	blood
36	chr6:144289800-144292800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:144289800-144293200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:144290000-144294400	Weak transcription	Small Intestine	intestine
39	chr6:144290000-144296200	Weak transcription	NHLF	lung
40	chr6:144290200-144291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:144290200-144296000	Enhancers	Fetal Kidney	kidney
42	chr6:144290400-144291200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:144290400-144291200	Enhancers	Fetal Heart	heart
44	chr6:144290400-144291600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144290400-144294400	Weak transcription	Fetal Intestine Large	intestine
46	chr6:144290600-144294400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:144291000-144293400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:144291000-144294200	Weak transcription	Placenta	Placenta
49	chr6:144291000-144295000	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links