Variant report

Variant	rs73401530
Chromosome Location	chr8:130699504-130699505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:130698912-130700214	A549	lung:	n/a	chr8:130699821-130699839 chr8:130699310-130699331
2	RAD21	chr8:130699378-130700336	HCT-116	colon:	n/a	n/a
3	RAD21	chr8:130699380-130700262	HCT-116	colon:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
2	chr8:128746735..128749301-chr8:130699107..130701549,4	K562	blood:
3	chr8:130697457..130699780-chr8:130703396..130705887,2	K562	blood:
4	chr8:130699308..130701478-chr8:130717660..130720655,2	K562	blood:
5	chr8:127888564..127889446-chr8:130699431..130700261,2	K562	blood:
6	chr8:128746816..128749956-chr8:130699107..130701261,3	K562	blood:
7	chr8:130689876..130691516-chr8:130698060..130699622,2	K562	blood:
8	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254223	TF binding region
ENSG00000136997	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16904112	1.00[AMR][1000 genomes]
rs73401537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7846223	1.00[AMR][1000 genomes]

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:36 , 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	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
3	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
5	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
9	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
11	chr8:130697800-130699600	Enhancers	HUVEC	blood vessel
12	chr8:130697800-130699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:130698200-130701400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:130698200-130701400	Weak transcription	Left Ventricle	heart
15	chr8:130698400-130700200	Enhancers	A549	lung
16	chr8:130698400-130701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:130698400-130703000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:130698600-130699800	Enhancers	K562	blood
19	chr8:130698600-130700800	Weak transcription	Right Ventricle	heart
20	chr8:130698600-130701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:130698600-130701600	Weak transcription	Liver	Liver
22	chr8:130698600-130703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:130698600-130705200	Weak transcription	Placenta	Placenta
24	chr8:130698800-130699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:130698800-130701000	Weak transcription	Right Atrium	heart
26	chr8:130698800-130701200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:130698800-130701200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:130698800-130702800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:130698800-130702800	Weak transcription	NHEK	skin
30	chr8:130698800-130703200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:130698800-130703200	Weak transcription	HMEC	breast
32	chr8:130698800-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:130699000-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:130699200-130701400	Weak transcription	NHDF-Ad	bronchial
35	chr8:130699400-130700000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:130699400-130701200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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