Variant report

Variant	rs6814325
Chromosome Location	chr4:102270495-102270496
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	RFX5	chr4:102267228-102271139	SK-N-SH	brain:	n/a	chr4:102270678-102270692 chr4:102270677-102270692 chr4:102270681-102270690
2	FOSL1	chr4:102270072-102271487	HCT-116	colon:	n/a	chr4:102271052-102271059 chr4:102271052-102271061
3	NFIC	chr4:102270465-102270944	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr4:102267747-102271298	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr4:102270169-102271497	HCT-116	colon:	n/a	n/a
6	NFIC	chr4:102270327-102271087	ECC-1	luminal epithelium:	n/a	n/a
7	FOSL1	chr4:102270384-102271396	HCT-116	colon:	n/a	chr4:102271052-102271059 chr4:102271052-102271061
8	POLR2A	chr4:102270091-102271211	HCT-116	colon:	n/a	n/a
9	MXI1	chr4:102265923-102271471	SK-N-SH	brain:	n/a	n/a
10	MYC	chr4:102270331-102271179	MCF10A-Er-Src	breast:	n/a	n/a
11	RFX5	chr4:102270415-102271196	Hela-S3	cervix:	n/a	chr4:102270678-102270692 chr4:102270677-102270692 chr4:102270681-102270690
12	POLR2A	chr4:102267797-102271221	MCF10A-Er-Src	breast:	n/a	n/a
13	JUND	chr4:102270076-102271427	HCT-116	colon:	n/a	chr4:102271050-102271061 chr4:102271052-102271059 chr4:102271052-102271061
14	POLR2A	chr4:102268192-102271372	HCT-116	colon:	n/a	n/a
15	POLR2A	chr4:102266230-102271632	MCF-7	breast:	n/a	n/a
16	NFIC	chr4:102270371-102271077	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
2	chr4:102269774..102272032-chr4:102277264..102279804,2	K562	blood:
3	chr4:102249081..102251620-chr4:102269591..102272220,2	MCF-7	breast:

Variant related genes	Relation type
PPP3CA	TF binding region
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000221265	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17030836	1.00[AMR][1000 genomes]
rs17031147	1.00[AMR][1000 genomes]
rs17031334	1.00[AMR][1000 genomes]
rs6826452	1.00[AMR][1000 genomes]
rs6828683	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102269000-102270800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:102269400-102270800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:102269600-102270600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:102269600-102270600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr4:102269600-102270600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:102269600-102270800	Flanking Active TSS	Hela-S3	cervix
7	chr4:102269800-102270800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:102269800-102270800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:102269800-102271400	Flanking Active TSS	NHEK	skin
10	chr4:102270000-102270800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:102270000-102270800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:102270000-102270800	Enhancers	Liver	Liver
13	chr4:102270000-102270800	Enhancers	Brain Angular Gyrus	brain
14	chr4:102270000-102270800	Enhancers	Brain Germinal Matrix	brain
15	chr4:102270000-102270800	Enhancers	Colonic Mucosa	Colon
16	chr4:102270000-102270800	Enhancers	Esophagus	oesophagus
17	chr4:102270000-102270800	Enhancers	Fetal Brain Male	brain
18	chr4:102270000-102270800	Enhancers	Fetal Heart	heart
19	chr4:102270000-102270800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:102270000-102270800	Enhancers	Placenta	Placenta
21	chr4:102270000-102270800	Enhancers	Left Ventricle	heart
22	chr4:102270000-102270800	Enhancers	Lung	lung
23	chr4:102270000-102270800	Enhancers	Pancreas	Pancrea
24	chr4:102270000-102270800	Enhancers	Right Atrium	heart
25	chr4:102270000-102270800	Enhancers	Right Ventricle	heart
26	chr4:102270000-102270800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:102270000-102270800	Enhancers	Small Intestine	intestine
28	chr4:102270000-102271000	Enhancers	Duodenum Mucosa	Duodenum
29	chr4:102270000-102271000	Enhancers	Fetal Intestine Small	intestine
30	chr4:102270000-102271400	Enhancers	Adipose Nuclei	Adipose
31	chr4:102270000-102271400	Enhancers	Gastric	stomach
32	chr4:102270000-102271600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:102270000-102271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:102270000-102271600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:102270000-102276200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:102270000-102276600	Weak transcription	Ovary	ovary
37	chr4:102270000-102280800	Weak transcription	Aorta	Aorta
38	chr4:102270200-102270600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:102270200-102270600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:102270200-102270600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:102270200-102270600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:102270200-102270600	Flanking Active TSS	A549	lung
43	chr4:102270200-102270600	Flanking Active TSS	HMEC	breast
44	chr4:102270200-102270800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr4:102270200-102270800	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:102270200-102270800	Enhancers	Colon Smooth Muscle	Colon
47	chr4:102270200-102270800	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:102270200-102271000	Enhancers	Primary B cells from cord blood	blood
49	chr4:102270200-102271000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:102270200-102271000	Enhancers	Fetal Intestine Large	intestine

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