Variant report

Variant	rs181222260
Chromosome Location	chr8:130698633-130698634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:130697302-130698639	SK-N-SH	brain:	n/a	n/a
2	JUND	chr8:130697083-130698644	HCT-116	colon:	n/a	n/a
3	POLR2A	chr8:130697637-130698701	HUVEC	blood vessel:	n/a	n/a
4	E2F6	chr8:130697624-130698643	A549	lung:	n/a	n/a
5	MAX	chr8:130696734-130698717	HCT-116	colon:	n/a	n/a
6	SIN3AK20	chr8:130697000-130698687	HCT-116	colon:	n/a	n/a
7	MAX	chr8:130697237-130698785	A549	lung:	n/a	n/a
8	SP1	chr8:130697065-130698677	HCT-116	colon:	n/a	n/a
9	SP1	chr8:130696567-130698653	HCT-116	colon:	n/a	n/a
10	POLR2A	chr8:130697082-130698714	HUVEC	blood vessel:	n/a	n/a
11	JUND	chr8:130696929-130698755	HCT-116	colon:	n/a	n/a
12	TCF12	chr8:130696866-130698740	A549	lung:	n/a	n/a
13	TEAD4	chr8:130697257-130698708	HCT-116	colon:	n/a	chr8:130698041-130698050

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
2	chr8:130697457..130699780-chr8:130703396..130705887,2	K562	blood:
3	chr8:130694433..130695997-chr8:130696991..130698919,2	K562	blood:
4	chr8:130689876..130691516-chr8:130698060..130699622,2	K562	blood:
5	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254223	TF binding region
ENSG00000254223	Chromatin interaction

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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:130696200-130698800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
4	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
6	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:130696800-130698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:130696800-130699200	Enhancers	NHDF-Ad	bronchial
9	chr8:130696800-130699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:130697000-130698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:130697000-130698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:130697000-130698800	Enhancers	Rectal Smooth Muscle	rectum
15	chr8:130697000-130698800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:130697000-130698800	Enhancers	NHLF	lung
17	chr8:130697000-130699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
19	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
21	chr8:130697400-130698800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:130697400-130698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:130697400-130698800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:130697400-130698800	Enhancers	Fetal Muscle Leg	muscle
25	chr8:130697400-130698800	Enhancers	HMEC	breast
26	chr8:130697400-130698800	Enhancers	HSMM	muscle
27	chr8:130697600-130698800	Enhancers	Aorta	Aorta
28	chr8:130697800-130698800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:130697800-130698800	Enhancers	NHEK	skin
30	chr8:130697800-130699000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:130697800-130699600	Enhancers	HUVEC	blood vessel
32	chr8:130697800-130699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:130698000-130698800	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:130698000-130698800	Enhancers	Right Atrium	heart
35	chr8:130698200-130701400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:130698200-130701400	Weak transcription	Left Ventricle	heart
37	chr8:130698400-130700200	Enhancers	A549	lung
38	chr8:130698400-130701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:130698400-130703000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:130698600-130699800	Enhancers	K562	blood
41	chr8:130698600-130700800	Weak transcription	Right Ventricle	heart
42	chr8:130698600-130701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:130698600-130701600	Weak transcription	Liver	Liver
44	chr8:130698600-130703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:130698600-130705200	Weak transcription	Placenta	Placenta

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