Variant report

Variant	rs7748833
Chromosome Location	chr6:149539730-149539731
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	IRF4	chr6:149539593-149539979	GM12878	blood:	n/a	n/a
2	BATF	chr6:149539665-149540024	GM12878	blood:	n/a	n/a
3	BATF	chr6:149539628-149540019	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149538892..149540721-chr6:149638148..149641111,2	MCF-7	breast:

Variant related genes	Relation type
TAB2	TF binding region
ENSG00000228408	TF binding region
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11965012	1.00[ASN][1000 genomes]
rs11968376	1.00[EUR][1000 genomes]
rs11968394	1.00[EUR][1000 genomes]
rs13437225	1.00[ASN][1000 genomes]
rs3813677	1.00[EUR][1000 genomes]
rs57567299	1.00[EUR][1000 genomes]
rs58764592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73779098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781703	1.00[ASN][1000 genomes]
rs7748133	0.87[ASN][1000 genomes]
rs7748668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498254	1.00[EUR][1000 genomes]
rs9498258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs9498259	1.00[JPT][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]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149533200-149549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:149534200-149547600	Weak transcription	Primary T cells from cord blood	blood
3	chr6:149534400-149545800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:149534800-149542200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:149534800-149542200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:149534800-149548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:149535000-149542600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:149535000-149546800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:149535200-149542600	Weak transcription	HSMM	muscle
10	chr6:149537400-149542400	Weak transcription	Fetal Heart	heart
11	chr6:149537800-149540200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:149538200-149540400	Enhancers	GM12878-XiMat	blood
13	chr6:149538200-149544600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:149538200-149548600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:149538600-149540400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:149538800-149539800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:149538800-149540000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:149538800-149540800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:149539000-149541600	Active TSS	Brain Hippocampus Middle	brain
20	chr6:149539200-149539800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:149539200-149539800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:149539400-149539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:149539400-149539800	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:149539400-149540200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:149539400-149544800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:149539600-149540000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:149539600-149540200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:149539600-149540200	Enhancers	Fetal Lung	lung
29	chr6:149539600-149540400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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