Variant report

Variant	rs550550780
Chromosome Location	chr6:13485693-13485694
allele	C/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	ELK1	chr6:13485595-13485705	GM12878	blood:	n/a	chr6:13485598-13485607 chr6:13485598-13485607
2	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
3	CHD1	chr6:13485653-13487078	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:13485620-13486608	GM12878	blood:	n/a	n/a
5	MYC	chr6:13485522-13485786	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr6:13485651-13488433	HEK293-T-REx	kidney:	n/a	chr6:13486705-13486714
7	POLR2A	chr6:13484266-13486670	GM12891	blood:	n/a	n/a
8	E2F4	chr6:13485568-13485736	MCF10A-Er-Src	breast:	n/a	n/a
9	TBL1XR1	chr6:13485644-13485891	K562	blood:	n/a	n/a
10	GATA1	chr6:13484243-13485738	PBDE	blood:	n/a	chr6:13484564-13484577 chr6:13485418-13485425
11	POLR2A	chr6:13484366-13488416	PBDE	blood:	n/a	n/a
12	MXI1	chr6:13485562-13488187	GM12878	blood:	n/a	n/a
13	GATA1	chr6:13483173-13486472	K562	blood:	n/a	chr6:13483771-13483784 chr6:13484564-13484577 chr6:13485418-13485425
14	MXI1	chr6:13485337-13488731	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13468490..13471439-chr6:13483203..13485930,2	K562	blood:
2	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
3	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
4	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
5	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
6	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
7	chr6:13484080..13486133-chr6:13486417..13487997,2	MCF-7	breast:
8	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
9	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
10	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3421701	chr6:13485573-13489871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:13481400-13486000	Weak transcription	Aorta	Aorta
4	chr6:13482600-13485800	Enhancers	Spleen	Spleen
5	chr6:13483200-13488800	Active TSS	Right Atrium	heart
6	chr6:13483400-13486400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:13483600-13485800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:13483800-13485800	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:13483800-13486000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:13484000-13485800	Weak transcription	Gastric	stomach
12	chr6:13484200-13486000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:13484200-13486000	Flanking Active TSS	HepG2	liver
14	chr6:13484200-13486000	Flanking Active TSS	K562	blood
15	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:13484400-13485800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:13484400-13485800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:13484400-13485800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:13484400-13485800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:13484400-13485800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:13484400-13486200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr6:13484400-13486400	Flanking Active TSS	HUVEC	blood vessel
23	chr6:13484600-13486200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr6:13484600-13487200	Flanking Active TSS	Liver	Liver
25	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
26	chr6:13484800-13485800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:13484800-13486200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:13484800-13486200	Flanking Active TSS	NHEK	skin
29	chr6:13484800-13486400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr6:13484800-13487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
32	chr6:13485000-13485800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:13485000-13485800	Enhancers	Placenta	Placenta
34	chr6:13485000-13486000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:13485000-13486200	Weak transcription	Small Intestine	intestine
36	chr6:13485000-13486600	Active TSS	Colonic Mucosa	Colon
37	chr6:13485000-13488800	Active TSS	Brain Angular Gyrus	brain
38	chr6:13485000-13489600	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:13485200-13486000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr6:13485200-13486000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:13485200-13488200	Active TSS	Stomach Smooth Muscle	stomach
42	chr6:13485200-13488200	Active TSS	NHLF	lung
43	chr6:13485200-13488600	Active TSS	Left Ventricle	heart
44	chr6:13485200-13488600	Active TSS	A549	lung
45	chr6:13485200-13488800	Active TSS	Brain Anterior Caudate	brain
46	chr6:13485200-13488800	Active TSS	Psoas Muscle	Psoas
47	chr6:13485400-13485800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr6:13485400-13485800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr6:13485400-13485800	Active TSS	Primary T cells fromperipheralblood	blood
50	chr6:13485400-13485800	Bivalent/Poised TSS	Fetal Stomach	stomach

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