Variant report

Variant	rs1030386
Chromosome Location	chr8:131323516-131323517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131322070..131324327-chr8:131371483..131374194,2	K562	blood:
2	chr8:131313445..131319102-chr8:131321325..131324984,6	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12675936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs12676014	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681590	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253189	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13256967	1.00[JPT][hapmap]
rs13269931	0.82[ASN][1000 genomes]
rs16904220	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs2114197	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34387098	0.82[ASN][1000 genomes]
rs34857454	0.82[ASN][1000 genomes]
rs36004599	0.82[ASN][1000 genomes]
rs55815182	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56086422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58012966	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66488832	0.93[ASN][1000 genomes]
rs6986746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7017795	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7018391	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7836536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1030386	HOXB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
2	chr8:131310800-131328200	Weak transcription	Lung	lung
3	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
4	chr8:131315400-131324200	Weak transcription	Fetal Lung	lung
5	chr8:131315400-131324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131315400-131325000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
9	chr8:131315600-131326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
11	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:131315600-131353400	Weak transcription	Dnd41	blood
13	chr8:131316000-131325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:131317400-131324800	Weak transcription	Fetal Kidney	kidney
15	chr8:131317400-131326000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:131318000-131323600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:131318400-131325200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:131319000-131324600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:131319000-131326000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:131319200-131323800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:131319200-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:131319400-131333600	Weak transcription	HepG2	liver
23	chr8:131319800-131324800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:131319800-131329800	Weak transcription	Right Ventricle	heart
25	chr8:131320000-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:131320000-131326000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:131320200-131324600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:131320400-131324800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131320400-131325600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:131321200-131323800	Enhancers	NHEK	skin
31	chr8:131321400-131323600	Enhancers	Fetal Intestine Large	intestine
32	chr8:131321600-131323800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:131321600-131323800	Enhancers	Osteobl	bone
34	chr8:131321800-131324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:131321800-131325600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:131322000-131324200	Weak transcription	Ovary	ovary
37	chr8:131322000-131324400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:131322000-131324600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:131322000-131326000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:131322000-131326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:131322000-131326000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:131322000-131326000	Weak transcription	Psoas Muscle	Psoas
43	chr8:131322000-131326000	Weak transcription	Right Atrium	heart
44	chr8:131322000-131326000	Weak transcription	Spleen	Spleen
45	chr8:131322000-131326200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:131322000-131326800	Enhancers	Fetal Heart	heart
47	chr8:131322000-131328800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:131322000-131329000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus

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