Variant report

Variant	rs528393194
Chromosome Location	chr6:24494392-24494393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:24493774-24494586	K562	blood:	n/a	chr6:24493967-24493976 chr6:24493966-24493976 chr6:24493965-24493980
2	TBL1XR1	chr6:24493661-24494412	K562	blood:	n/a	n/a
3	CTCF	chr6:24494347-24496072	SK-N-SH	brain:	n/a	n/a
4	CUX1	chr6:24493752-24494453	K562	blood:	n/a	n/a
5	GATA1	chr6:24493258-24495592	PBDE	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
2	chr6:24493803..24496211-chr6:24773975..24776646,3	K562	blood:
3	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:
4	chr6:24489101..24491684-chr6:24493403..24495493,2	MCF-7	breast:
5	chr6:24487824..24490266-chr6:24492770..24497111,3	MCF-7	breast:
6	chr6:24402909..24405943-chr6:24492830..24496087,3	K562	blood:
7	chr6:24488265..24492557-chr6:24493494..24498787,7	K562	blood:
8	chr6:24494081..24496615-chr6:24665704..24668263,2	K562	blood:
9	chr6:24491848..24494534-chr6:24497211..24499675,3	MCF-7	breast:
10	chr6:24487096..24491354-chr6:24491448..24495730,8	K562	blood:

No data

Variant related genes	Relation type
ALDH5A1	TF binding region
GPLD1	TF binding region
ENSG00000124532	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000112293	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3351586	chr6:24494123-24497171	Bivalent/Poised TSS Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
2	chr6:24473000-24494600	Weak transcription	Ovary	ovary
3	chr6:24489800-24494600	Weak transcription	Right Atrium	heart
4	chr6:24490400-24494400	Weak transcription	Right Ventricle	heart
5	chr6:24490400-24494600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:24490600-24494400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:24490600-24494400	Weak transcription	Hela-S3	cervix
8	chr6:24492000-24494400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:24492000-24494400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:24492000-24494600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:24492800-24494400	Enhancers	Fetal Thymus	thymus
12	chr6:24492800-24494400	Enhancers	Thymus	Thymus
13	chr6:24493200-24494400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:24493200-24494400	Weak transcription	Spleen	Spleen
15	chr6:24493200-24495000	Flanking Active TSS	K562	blood
16	chr6:24493600-24494400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:24493600-24494400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:24493800-24494400	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:24493800-24494400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:24493800-24494400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:24493800-24494400	Enhancers	Liver	Liver
22	chr6:24493800-24494400	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:24493800-24494800	Flanking Active TSS	Dnd41	blood
24	chr6:24494000-24494400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:24494000-24494400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:24494000-24494400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr6:24494000-24494400	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:24494000-24495000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr6:24494000-24495000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:24494000-24496000	Active TSS	Brain Angular Gyrus	brain
31	chr6:24494000-24496000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:24494200-24494400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr6:24494200-24494400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:24494200-24494400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:24494200-24494400	Enhancers	Primary B cells from cord blood	blood
36	chr6:24494200-24494400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:24494200-24494400	Enhancers	Brain Cingulate Gyrus	brain
38	chr6:24494200-24494400	Enhancers	Brain Germinal Matrix	brain
39	chr6:24494200-24494400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:24494200-24494400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:24494200-24494400	Enhancers	Fetal Brain Female	brain
42	chr6:24494200-24494400	Weak transcription	Fetal Intestine Large	intestine
43	chr6:24494200-24494400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr6:24494200-24494400	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:24494200-24494600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:24494200-24494600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:24494200-24494600	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:24494200-24494600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:24494200-24494600	Enhancers	Fetal Brain Male	brain
50	chr6:24494200-24494600	Enhancers	A549	lung

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