Variant report

Variant	rs7012343
Chromosome Location	chr8:124460248-124460249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124459866..124461765-chr8:124465960..124468688,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM83A-1	chr8:124460171-124460464	XLOC_006912

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10096099	0.88[ASN][1000 genomes]
rs10102308	0.88[ASN][1000 genomes]
rs10102861	0.88[ASN][1000 genomes]
rs10111271	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956126	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956131	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774702	0.87[EUR][1000 genomes]
rs11776589	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11783637	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11787093	0.91[EUR][1000 genomes]
rs12155679	0.88[ASN][1000 genomes]
rs12155989	0.88[ASN][1000 genomes]
rs12543979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707901	0.87[EUR][1000 genomes]
rs13266016	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3779985	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779989	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779991	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs3857957	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs3901852	0.84[ASN][1000 genomes]
rs4006576	0.82[EUR][1000 genomes]
rs4870851	0.87[EUR][1000 genomes]
rs4871366	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871367	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871368	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871370	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871371	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871373	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871377	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56098264	0.88[ASN][1000 genomes]
rs62519216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470146	0.85[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982598	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs6986525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986901	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6987599	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72709010	0.88[ASN][1000 genomes]
rs7817573	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7833321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836626	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7836880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844004	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
2	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
3	chr8:124430600-124461800	Weak transcription	Fetal Brain Male	brain
4	chr8:124431200-124462200	Weak transcription	Fetal Heart	heart
5	chr8:124436600-124464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:124437600-124462400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:124441600-124461600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:124441600-124462600	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:124445600-124465400	Weak transcription	Pancreas	Pancrea
10	chr8:124447600-124467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:124450200-124460800	Weak transcription	NHDF-Ad	bronchial
13	chr8:124450400-124461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
15	chr8:124452000-124462400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:124452000-124467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:124453000-124462400	Weak transcription	Right Ventricle	heart
18	chr8:124453400-124461800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:124453600-124464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:124453800-124464000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:124454000-124462600	Weak transcription	Fetal Lung	lung
22	chr8:124454000-124462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:124454000-124463200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:124454000-124465000	Weak transcription	Brain Angular Gyrus	brain
25	chr8:124454000-124467400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:124454000-124467800	Weak transcription	Esophagus	oesophagus
27	chr8:124454000-124468200	Weak transcription	NHLF	lung
28	chr8:124454000-124472800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:124454000-124489400	Weak transcription	Gastric	stomach
31	chr8:124454200-124460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:124454200-124461200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:124454200-124462400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:124454200-124462600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:124454200-124465400	Weak transcription	Brain Substantia Nigra	brain
36	chr8:124454200-124465400	Weak transcription	HSMMtube	muscle
37	chr8:124454400-124460800	Weak transcription	Osteobl	bone
38	chr8:124454400-124462400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:124454400-124462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:124454400-124462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:124454400-124467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:124454400-124478200	Weak transcription	HSMM	muscle
43	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:124454600-124461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:124454600-124462400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:124454600-124465200	Weak transcription	Placenta	Placenta
48	chr8:124454600-124467800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:124454600-124468400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links