Variant report

Variant	rs6996373
Chromosome Location	chr8:120822097-120822098
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120808890..120811019-chr8:120820792..120823982,3	K562	blood:
2	chr8:120822012..120824236-chr8:120824447..120826792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10089416	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10101391	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10101983	1.00[CEU][hapmap]
rs10106425	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10110853	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10505373	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11552092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1433949	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16892875	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16893014	0.86[EUR][1000 genomes]
rs16893117	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16893176	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893201	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2164021	0.84[EUR][1000 genomes]
rs55834530	0.87[EUR][1000 genomes]
rs56116632	0.91[EUR][1000 genomes]
rs56168312	0.91[EUR][1000 genomes]
rs56285268	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56369293	0.91[EUR][1000 genomes]
rs56712359	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57094219	0.91[EUR][1000 genomes]
rs57423283	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60576513	0.91[EUR][1000 genomes]
rs60762762	0.91[EUR][1000 genomes]
rs61585800	0.91[EUR][1000 genomes]
rs6469842	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6469843	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6469847	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469848	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989251	0.91[EUR][1000 genomes]
rs6994297	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995449	0.91[EUR][1000 genomes]
rs7017377	0.85[AMR][1000 genomes]
rs73702609	1.00[EUR][1000 genomes]
rs73702610	0.89[EUR][1000 genomes]
rs73702612	1.00[EUR][1000 genomes]
rs73713100	0.91[EUR][1000 genomes]
rs73713102	0.91[EUR][1000 genomes]
rs7822887	0.85[AMR][1000 genomes]
rs7827756	0.91[EUR][1000 genomes]
rs7831321	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7833407	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7835482	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7839002	0.80[CEU][hapmap];0.80[YRI][hapmap]
rs7839841	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843034	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs956748	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs956749	1.00[CEU][hapmap];0.87[YRI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6996373	TAF2	cis	lung	GTEx
rs6996373	TAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
5	chr8:120801800-120830400	Weak transcription	NHEK	skin
6	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
7	chr8:120805200-120841400	Weak transcription	Gastric	stomach
8	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
9	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
10	chr8:120808000-120830200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:120812600-120823000	Strong transcription	Adipose Nuclei	Adipose
12	chr8:120812600-120833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:120812800-120822800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:120812800-120822800	Strong transcription	HSMM	muscle
16	chr8:120812800-120823000	Strong transcription	Primary T cells from cord blood	blood
17	chr8:120812800-120823200	Strong transcription	Fetal Thymus	thymus
18	chr8:120812800-120826600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:120812800-120834200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
25	chr8:120813200-120823000	Strong transcription	Osteobl	bone
26	chr8:120813200-120829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:120813400-120822200	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:120813400-120822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:120813400-120822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:120813400-120823000	Strong transcription	NH-A	brain
31	chr8:120813400-120824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:120813400-120826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120813400-120829600	Weak transcription	HSMMtube	muscle
34	chr8:120813400-120835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
36	chr8:120813800-120822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:120813800-120835600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:120814000-120828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:120814200-120823200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:120814200-120824200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:120814400-120823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:120814400-120829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:120814400-120829800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:120814400-120835600	Strong transcription	Dnd41	blood
46	chr8:120814600-120824800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:120815000-120830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:120815200-120839800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:120815400-120832800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:120815400-120836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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