Variant report

Variant	rs10107362
Chromosome Location	chr8:130986984-130986985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:130986917-130987288	K562	blood:	n/a	n/a
2	E2F6	chr8:130986971-130987094	K562	blood:	n/a	n/a
3	MAX	chr8:130986964-130987153	K562	blood:	n/a	n/a
4	YY1	chr8:130986954-130987127	K562	blood:	n/a	n/a
5	ZNF384	chr8:130986470-130987470	K562	blood:	n/a	n/a
6	MAX	chr8:130986951-130987235	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130984372..130987995-chr8:130999430..131001156,3	K562	blood:
2	chr8:130986305..130988382-chr8:130992226..130994888,2	K562	blood:
3	chr8:130986346..130989213-chr8:131003390..131006806,3	K562	blood:
4	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:

No data

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13273700	0.83[ASN][1000 genomes]
rs16904181	0.94[ASN][1000 genomes]
rs4733754	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470787	0.96[ASN][1000 genomes]
rs7357390	0.82[ASN][1000 genomes]
rs7823995	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs837231	0.91[ASN][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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
2	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
3	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:130982600-130988200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130983200-130987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130983200-130989600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:130984000-130988400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:130984600-130987600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:130984600-130987800	Weak transcription	HSMM	muscle
10	chr8:130984600-130988200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr8:130984600-130988400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:130984600-130989200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:130984800-130987400	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:130984800-130987800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:130984800-130988000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:130984800-130989600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:130984800-130990800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:130985000-130989000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:130985000-130989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:130985000-130992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:130985000-130995800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:130985000-130995800	Weak transcription	Left Ventricle	heart
23	chr8:130985000-130995800	Weak transcription	Right Atrium	heart
24	chr8:130985200-130988200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:130985200-130989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:130985200-130989600	Enhancers	Primary T cells from cord blood	blood
27	chr8:130985200-130989600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:130985200-130991200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:130985200-130993400	Weak transcription	HMEC	breast
30	chr8:130985200-130996000	Weak transcription	Stomach Mucosa	stomach
31	chr8:130985400-130989000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr8:130985600-130988000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:130985600-130988200	Enhancers	Primary B cells from cord blood	blood
34	chr8:130985600-130995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:130985600-130995800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:130985800-130987200	Weak transcription	Lung	lung
37	chr8:130985800-130994000	Weak transcription	NHEK	skin
38	chr8:130986000-130995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:130986000-130996200	Weak transcription	Hela-S3	cervix
40	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
41	chr8:130986400-130989600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:130986400-130990200	Weak transcription	Adipose Nuclei	Adipose
43	chr8:130986400-130994000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:130986400-130994000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:130986400-130994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:130986400-130994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:130986400-130995800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:130986400-130995800	Weak transcription	Brain Substantia Nigra	brain
49	chr8:130986400-130995800	Weak transcription	Gastric	stomach
50	chr8:130986400-130995800	Weak transcription	Placenta Amnion	Placenta Amnion

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