Variant report

Variant	rs555974812
Chromosome Location	chr8:131440336-131440337
allele	G/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	JUND	chr8:131440176-131440512	HepG2	liver:	n/a	chr8:131440327-131440338 chr8:131440324-131440335 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
2	FOS	chr8:131440193-131440467	HUVEC	blood vessel:	n/a	chr8:131440324-131440335 chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
3	FOS	chr8:131440216-131440464	MCF10A-Er-Src	breast:	n/a	chr8:131440324-131440335 chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
4	FOS	chr8:131440195-131440466	MCF10A-Er-Src	breast:	n/a	chr8:131440324-131440335 chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
5	FOSL2	chr8:131440106-131440559	A549	lung:	n/a	chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
6	FOS	chr8:131440174-131440520	MCF10A-Er-Src	breast:	n/a	chr8:131440324-131440335 chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335
7	FOS	chr8:131440236-131440466	MCF10A-Er-Src	breast:	n/a	chr8:131440324-131440335 chr8:131440327-131440338 chr8:131440324-131440336 chr8:131440325-131440334 chr8:131440325-131440335

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131440305-131440355	SAEC	small airway:	n/a
2	chr8:131440305-131440355	K562	blood:	n/a
3	chr8:131440305-131440355	PANC-1	pancreas:	n/a
4	chr8:131440305-131440355	HNPCEpiC	eye:	n/a
5	chr8:131440305-131440355	HCM	heart:	n/a
6	chr8:131440305-131440355	HRE	kidney:	n/a
7	chr8:131440305-131440355	MCF10A-Er-Src	breast:	n/a
8	chr8:131440305-131440355	ovcar-3	ovarian:	n/a
9	chr8:131440305-131440355	BE2_C	brain:	n/a
10	chr8:131440305-131440355	SKMC	muscle:	n/a
11	chr8:131440305-131440355	CMK	blood:	n/a
12	chr8:131440305-131440355	AoSMC	blood vessel:	n/a
13	chr8:131440305-131440355	A549	lung:	n/a
14	chr8:131440305-131440355	NT2-D1	testis:	n/a
15	chr8:131440305-131440355	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:131440305-131440355	RPTEC	kidney:	n/a
17	chr8:131440305-131440355	HEK293	kidney:	embryo
18	chr8:131440305-131440355	AG09309	skin:	n/a
19	chr8:131440305-131440355	AG09319	gingival:	n/a
20	chr8:131440305-131440355	Caco-2	colon:	n/a
21	chr8:131440305-131440355	ProgFib	skin:	n/a
22	chr8:131440305-131440355	NHBE	bronchial:	n/a
23	chr8:131440305-131440355	HRCEpiC	kidney:	n/a
24	chr8:131440305-131440355	HCPEpiC	choroid plexus:	n/a
25	chr8:131440305-131440355	NHDF-neo	bronchial:	n/a
26	chr8:131440305-131440355	SK-N-SH	brain:	n/a
27	chr8:131440305-131440355	Hepatocyte	liver:	n/a
28	chr8:131440305-131440355	NH-A	brain:	n/a
29	chr8:131440305-131440355	HIPEpiC	eye:	n/a
30	chr8:131440305-131440355	HUVEC	blood vessel:	n/a
31	chr8:131440305-131440355	Hela-S3	cervix:	n/a
32	chr8:131440305-131440355	BJ	skin:	n/a
33	chr8:131440305-131440355	MCF-7	breast:	n/a
34	chr8:131440305-131440355	ECC-1	luminal epithelium:	n/a
35	chr8:131440305-131440355	IMR90	lung:	fetal
36	chr8:131440305-131440355	HCF	heart:	n/a
37	chr8:131440305-131440355	PFSK-1	brain:	n/a
38	chr8:131440305-131440355	SK-N-SH_RA	brain:	n/a
39	chr8:131440305-131440355	GM12892	blood:	n/a
40	chr8:131440305-131440355	GM06990	blood:	n/a
41	chr8:131440305-131440355	GM19239	blood:	n/a
42	chr8:131440305-131440355	AG04450	lung:	fetal
43	chr8:131440305-131440355	AG10803	skin:	n/a
44	chr8:131440305-131440355	HCT-116	colon:	n/a
45	chr8:131440305-131440355	PrEC	prostate:	n/a
46	chr8:131440305-131440355	NB4	blood:	n/a
47	chr8:131440305-131440355	HAEpiC	amniotic membrane:	n/a
48	chr8:131440305-131440355	LNCaP	prostate:	n/a
49	chr8:131440305-131440355	Jurkat	blood:	n/a
50	chr8:131440305-131440355	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ASAP1	CpG island
ENSG00000153317	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3321933	chr8:131438670-131443068	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3324025	chr8:131439370-131443168	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
2	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
4	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
5	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:131429400-131447200	Weak transcription	Gastric	stomach
7	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
11	chr8:131432200-131449400	Weak transcription	Ovary	ovary
12	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:131432400-131441600	Weak transcription	Osteobl	bone
14	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:131433800-131440800	Weak transcription	Right Ventricle	heart
16	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:131434600-131441600	Weak transcription	Hela-S3	cervix
19	chr8:131434600-131447000	Weak transcription	HSMM	muscle
20	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:131434800-131442000	Weak transcription	Fetal Stomach	stomach
22	chr8:131434800-131442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:131435000-131441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:131435000-131446600	Weak transcription	NH-A	brain
26	chr8:131435200-131440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131435200-131441400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:131435200-131442000	Weak transcription	HUVEC	blood vessel
29	chr8:131435200-131442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:131435200-131442200	Weak transcription	Left Ventricle	heart
31	chr8:131435200-131443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:131435800-131441000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:131435800-131441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:131435800-131443200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:131437000-131440600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:131437000-131441200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:131437000-131442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:131437800-131443400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:131438000-131440800	Genic enhancers	A549	lung
42	chr8:131438000-131441800	Strong transcription	NHEK	skin
43	chr8:131438200-131440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131438200-131443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:131438400-131442000	Weak transcription	Right Atrium	heart
47	chr8:131438800-131440400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:131438800-131441400	Weak transcription	Fetal Brain Female	brain
49	chr8:131438800-131442200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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