Variant report

Variant	rs546923510
Chromosome Location	chr6:150920360-150920361
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	RCOR1	chr6:150920140-150920991	GM12878	blood:	n/a	n/a
2	WRNIP1	chr6:150920292-150920567	GM12878	blood:	n/a	n/a
3	KAP1	chr6:150920064-150920925	HEK293	kidney:	n/a	n/a
4	STAT1	chr6:150920186-150920526	GM12878	blood:	n/a	n/a
5	E2F6	chr6:150920122-150920642	H1-hESC	embryonic stem cell:	n/a	chr6:150920344-150920351 chr6:150920344-150920352 chr6:150920343-150920354 chr6:150920344-150920352 chr6:150920344-150920355 chr6:150920343-150920353
6	MXI1	chr6:150920242-150920756	GM12878	blood:	n/a	n/a
7	ZNF143	chr6:150920093-150920449	GM12878	blood:	n/a	n/a
8	BATF	chr6:150920260-150920552	GM12878	blood:	n/a	n/a
9	BCL11A	chr6:150920350-150920669	GM12878	blood:	n/a	chr6:150920568-150920577
10	ESRRA	chr6:150920131-150920985	GM12878	blood:	n/a	n/a
11	EP300	chr6:150920124-150920655	GM12878	blood:	n/a	chr6:150920488-150920502

Variant related genes	Relation type
PLEKHG1	TF binding region
ENSG00000232891	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3415576	chr6:150920109-150923107	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150901600-150920400	Weak transcription	Right Atrium	heart
2	chr6:150911800-150920800	Weak transcription	Aorta	Aorta
3	chr6:150918200-150920600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr6:150918400-150920800	Weak transcription	Psoas Muscle	Psoas
5	chr6:150919200-150920600	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr6:150919200-150921000	Weak transcription	Spleen	Spleen
7	chr6:150920000-150920400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr6:150920000-150920400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:150920000-150920400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:150920000-150920400	Flanking Active TSS	Liver	Liver
11	chr6:150920000-150920400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr6:150920000-150920400	Enhancers	Fetal Brain Female	brain
13	chr6:150920000-150920400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:150920000-150920400	Flanking Active TSS	Thymus	Thymus
15	chr6:150920000-150920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:150920000-150920600	Flanking Active TSS	Fetal Thymus	thymus
17	chr6:150920000-150920600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
18	chr6:150920200-150920400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:150920200-150920400	Bivalent Enhancer	Primary T cells from cord blood	blood
20	chr6:150920200-150920400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
21	chr6:150920200-150920400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr6:150920200-150920400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr6:150920200-150920400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:150920200-150920400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:150920200-150920400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:150920200-150920400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:150920200-150920400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
28	chr6:150920200-150920400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:150920200-150920400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:150920200-150920400	Enhancers	Adipose Nuclei	Adipose
31	chr6:150920200-150920400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr6:150920200-150920400	Enhancers	Placenta	Placenta
33	chr6:150920200-150920400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:150920200-150920400	Enhancers	Small Intestine	intestine
35	chr6:150920200-150920400	Enhancers	HMEC	breast
36	chr6:150920200-150920600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:150920200-150920600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr6:150920200-150920600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr6:150920200-150920600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr6:150920200-150920600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr6:150920200-150920600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:150920200-150920600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr6:150920200-150920600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:150920200-150920600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:150920200-150920600	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr6:150920200-150920600	Weak transcription	Colonic Mucosa	Colon
47	chr6:150920200-150920600	Enhancers	Fetal Brain Male	brain
48	chr6:150920200-150920600	Bivalent/Poised TSS	NHEK	skin
49	chr6:150920200-150920800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr6:150920200-150920800	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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