Variant report

Variant	rs548951657
Chromosome Location	chr6:13813605-13813606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:13813284-13815235	IMR90	lung:	n/a	n/a
2	JUND	chr6:13813296-13815234	K562	blood:	n/a	chr6:13813450-13813461 chr6:13814187-13814196
3	NR2F2	chr6:13813564-13815389	K562	blood:	n/a	n/a
4	GATA1	chr6:13813322-13814637	PBDE	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
2	chr6:13709898..13714007-chr6:13809605..13814723,8	K562	blood:
3	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
4	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
5	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
6	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
7	chr6:13812222..13814493-chr6:13862660..13864603,2	MCF-7	breast:
8	chr6:13572890..13574981-chr6:13813241..13814788,2	K562	blood:
9	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233075	TF binding region
ENSG00000272209	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374707	chr6:13813498-13816346	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13802800-13813800	Weak transcription	Esophagus	oesophagus
2	chr6:13806000-13813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:13811200-13813800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:13811400-13815000	Active TSS	GM12878-XiMat	blood
5	chr6:13812000-13814000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr6:13812200-13813800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr6:13812200-13814000	Flanking Active TSS	Dnd41	blood
8	chr6:13812400-13813800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:13812600-13813800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:13812600-13814000	Active TSS	Fetal Brain Female	brain
11	chr6:13812800-13813800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:13813200-13813800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:13813200-13813800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:13813200-13814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:13813200-13814000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr6:13813200-13814000	Flanking Active TSS	HUVEC	blood vessel
17	chr6:13813200-13814200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:13813200-13814200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:13813200-13814200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:13813200-13815200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:13813200-13815400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:13813200-13815400	Active TSS	A549	lung
23	chr6:13813200-13815600	Active TSS	HSMMtube	muscle
24	chr6:13813400-13813800	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:13813400-13813800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:13813400-13813800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:13813400-13813800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr6:13813400-13813800	Weak transcription	Lung	lung
29	chr6:13813400-13813800	Weak transcription	Stomach Mucosa	stomach
30	chr6:13813400-13813800	Weak transcription	Spleen	Spleen
31	chr6:13813400-13814000	Active TSS	Fetal Brain Male	brain
32	chr6:13813400-13814200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr6:13813400-13814200	Active TSS	Right Atrium	heart
34	chr6:13813400-13815000	Active TSS	Placenta	Placenta
35	chr6:13813400-13815000	Active TSS	Rectal Smooth Muscle	rectum
36	chr6:13813400-13815200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:13813400-13815200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:13813400-13815200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:13813400-13815200	Active TSS	Fetal Kidney	kidney
40	chr6:13813400-13815200	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:13813400-13815200	Active TSS	NHLF	lung
42	chr6:13813400-13815400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:13813400-13815400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:13813400-13815400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:13813400-13815400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:13813400-13815400	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:13813400-13815400	Active TSS	Brain Germinal Matrix	brain
50	chr6:13813400-13815400	Active TSS	Brain Substantia Nigra	brain

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