Variant report

Variant	rs116866524
Chromosome Location	chr6:33258950-33258951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33257990-33262052	K562	blood:	n/a	n/a
2	POLR2A	chr6:33258670-33259687	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:33256672-33259552	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:33256748-33260558	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr6:33256261-33262240	K562	blood:	n/a	n/a
6	POLR2A	chr6:33256609-33259722	K562	blood:	n/a	n/a
7	POLR2A	chr6:33258726-33259739	K562	blood:	n/a	n/a
8	POLR2A	chr6:33258021-33261304	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:33256458-33262163	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr6:33256661-33261506	K562	blood:	n/a	n/a
11	POLR2A	chr6:33256719-33259141	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:33256816-33259377	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33256810-33260619	K562	blood:	n/a	n/a
14	POLR2A	chr6:33257977-33260000	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr6:33258750-33259001	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:33258760-33260442	K562	blood:	n/a	n/a
17	POLR2A	chr6:33256573-33259641	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:33258866-33259033	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
20	POLR2A	chr6:33256598-33261687	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:33258652-33259293	HCT-116	colon:	n/a	n/a
22	POLR2A	chr6:33256307-33259037	K562	blood:	n/a	n/a
23	POLR2A	chr6:33256606-33259470	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:32937120..32939036-chr6:33257083..33259939,2	MCF-7	breast:
2	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
3	chr6:33256540..33259907-chr6:33358017..33361464,3	MCF-7	breast:
4	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
5	chr1:16840533..16841090-chr6:33258251..33259091,2	NB4	blood:
6	chr6:33256218..33259091-chr6:33279064..33284854,6	MCF-7	breast:
7	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
8	chr6:33173908..33176023-chr6:33257331..33259282,2	K562	blood:
9	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
10	chr6:33258827..33261135-chr6:33395874..33397870,2	K562	blood:

No data

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000112511	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231925	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv3353999	chr6:33258174-33261772	Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33257600-33259000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:33258000-33259000	Flanking Active TSS	GM12878-XiMat	blood
3	chr6:33258200-33259000	Weak transcription	Gastric	stomach
4	chr6:33258200-33259000	Transcr. at gene 5' and 3'	K562	blood
5	chr6:33258200-33259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:33258200-33259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:33258200-33264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:33258200-33265000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:33258200-33265200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:33258400-33259000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:33258400-33259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:33258400-33259000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:33258400-33259000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:33258400-33259000	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:33258400-33259000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:33258400-33259000	Weak transcription	HUVEC	blood vessel
17	chr6:33258400-33259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:33258400-33259200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:33258400-33259200	Weak transcription	Fetal Lung	lung
20	chr6:33258400-33259400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:33258400-33259400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:33258400-33259400	Weak transcription	Left Ventricle	heart
23	chr6:33258400-33259400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:33258400-33259400	Weak transcription	NH-A	brain
25	chr6:33258400-33259800	Weak transcription	Aorta	Aorta
26	chr6:33258400-33259800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:33258400-33260000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:33258400-33260200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:33258400-33261200	Strong transcription	Brain Angular Gyrus	brain
30	chr6:33258400-33264600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:33258400-33264800	Weak transcription	Stomach Mucosa	stomach
32	chr6:33258400-33265000	Weak transcription	Right Atrium	heart
33	chr6:33258600-33259000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:33258600-33259000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:33258600-33259000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:33258600-33259000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:33258600-33259000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:33258600-33259000	Weak transcription	Brain Substantia Nigra	brain
39	chr6:33258600-33259000	Weak transcription	Colonic Mucosa	Colon
40	chr6:33258600-33259000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:33258600-33259000	Genic enhancers	HepG2	liver
42	chr6:33258600-33259000	Enhancers	HMEC	breast
43	chr6:33258600-33259000	Weak transcription	HSMMtube	muscle
44	chr6:33258600-33259000	Genic enhancers	Osteobl	bone
45	chr6:33258600-33259200	Genic enhancers	Primary T cells from cord blood	blood
46	chr6:33258600-33259200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:33258600-33259200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:33258600-33259200	Weak transcription	Fetal Intestine Small	intestine
49	chr6:33258600-33259200	Weak transcription	Fetal Stomach	stomach
50	chr6:33258600-33259200	Weak transcription	Placenta Amnion	Placenta Amnion

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