Variant report

Variant	rs77747031
Chromosome Location	chr3:49977032-49977033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr3:49977000-49977845	A549	lung:	n/a	n/a
2	MXI1	chr3:49976960-49978768	IMR90	lung:	n/a	n/a
3	POLR2A	chr3:49977020-49978294	PFSK-1	brain:	n/a	n/a
4	TCF12	chr3:49977031-49978336	ECC-1	luminal epithelium:	n/a	chr3:49977322-49977329
5	HCFC1	chr3:49977019-49978835	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr3:49977024-49978274	GM12878	blood:	n/a	n/a
7	RUNX3	chr3:49977018-49978372	GM12878	blood:	n/a	chr3:49977345-49977354 chr3:49977345-49977354
8	POLR2A	chr3:49976773-49978291	HepG2	liver:	n/a	n/a
9	HEY1	chr3:49977019-49978173	HepG2	liver:	n/a	chr3:49977775-49977790
10	CBX3	chr3:49976962-49978180	K562	blood:	n/a	n/a
11	POLR2A	chr3:49977022-49978302	SK-N-MC	brain:	n/a	n/a
12	SP1	chr3:49977028-49978213	HCT-116	colon:	n/a	chr3:49977386-49977407
13	MAX	chr3:49976983-49978255	HepG2	liver:	n/a	n/a
14	MAX	chr3:49977023-49978304	A549	lung:	n/a	n/a
15	MTA3	chr3:49976957-49978618	GM12878	blood:	n/a	n/a
16	SREBP1	chr3:49976900-49978490	GM12878	blood:	n/a	n/a
17	NR2F2	chr3:49977031-49977572	K562	blood:	n/a	n/a
18	MAX	chr3:49977003-49978252	HepG2	liver:	n/a	n/a
19	NR2F2	chr3:49976973-49977932	K562	blood:	n/a	n/a
20	YY1	chr3:49977026-49978199	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:49966817..49967335-chr3:49977017..49977900,2	MCF-7	breast:
2	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
3	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
4	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
5	chr3:49935827..49937610-chr3:49975872..49978554,2	K562	blood:
6	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
7	chr3:49892284..49895111-chr3:49976165..49977880,2	K562	blood:
8	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
9	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
10	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:

No data

Variant related genes	Relation type
RBM6	TF binding region
ENSG00000183763	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000230698	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000164077	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv513047	chr3:49974660-49977265	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv2517369	chr3:49975235-49977296	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv3433975	chr3:49975679-49977391	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	esv3345193	chr3:49975875-49977841	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3421180	chr3:49976028-49977058	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv2107111	chr3:49976038-49977099	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv1004636	chr3:49976226-49977653	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49975000-49977400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:49976600-49977400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:49976800-49977400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:49976800-49977400	Enhancers	Fetal Thymus	thymus
6	chr3:49976800-49977400	Enhancers	Spleen	Spleen
7	chr3:49977000-49977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:49977000-49977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:49977000-49977200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:49977000-49977200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:49977000-49977200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:49977000-49977200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:49977000-49977200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:49977000-49977200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:49977000-49977200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:49977000-49977200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:49977000-49977200	Active TSS	Brain Hippocampus Middle	brain
18	chr3:49977000-49977200	Enhancers	Colonic Mucosa	Colon
19	chr3:49977000-49977200	Enhancers	Colon Smooth Muscle	Colon
20	chr3:49977000-49977200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:49977000-49977200	Enhancers	Fetal Intestine Large	intestine
22	chr3:49977000-49977200	Enhancers	Fetal Intestine Small	intestine
23	chr3:49977000-49977200	Enhancers	Fetal Muscle Trunk	muscle
24	chr3:49977000-49977200	Enhancers	Fetal Stomach	stomach
25	chr3:49977000-49977200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr3:49977000-49977200	Enhancers	Right Atrium	heart
27	chr3:49977000-49977200	Enhancers	HMEC	breast
28	chr3:49977000-49977200	Enhancers	NH-A	brain
29	chr3:49977000-49977400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:49977000-49977400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr3:49977000-49977400	Enhancers	Primary B cells from cord blood	blood
32	chr3:49977000-49977400	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:49977000-49977400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr3:49977000-49977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:49977000-49977400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:49977000-49977400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:49977000-49977400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:49977000-49977400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:49977000-49977400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr3:49977000-49977400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr3:49977000-49977400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr3:49977000-49977400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:49977000-49977400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:49977000-49977400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr3:49977000-49977400	Enhancers	Placenta	Placenta
46	chr3:49977000-49977400	Enhancers	Gastric	stomach
47	chr3:49977000-49977400	Enhancers	Pancreas	Pancrea
48	chr3:49977000-49977400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:49977000-49977400	Flanking Active TSS	Dnd41	blood
50	chr3:49977000-49977400	Flanking Active TSS	GM12878-XiMat	blood

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