Variant report

Variant	rs7812798
Chromosome Location	chr8:131355950-131355951
allele	C/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	POLR2A	chr8:131355505-131356069	GM12878	blood:	n/a	n/a
2	UBTF	chr8:131355349-131356047	K562	blood:	n/a	n/a
3	GATA1	chr8:131354549-131356432	K562	blood:	n/a	chr8:131355529-131355538
4	JUND	chr8:131355256-131355992	K562	blood:	n/a	chr8:131355546-131355554 chr8:131355393-131355405
5	POLR2A	chr8:131354522-131356029	SK-N-SH	brain:	n/a	n/a
6	TBL1XR1	chr8:131355241-131356091	K562	blood:	n/a	n/a
7	GATA1	chr8:131354972-131356072	PBDE	blood:	n/a	chr8:131355529-131355538
8	ARID3A	chr8:131355219-131355996	K562	blood:	n/a	n/a
9	STAT3	chr8:131355947-131356016	MCF10A-Er-Src	breast:	n/a	n/a
10	TBL1XR1	chr8:131355148-131355972	K562	blood:	n/a	n/a
11	NR2F2	chr8:131355074-131355987	K562	blood:	n/a	n/a
12	POLR2A	chr8:131354760-131356118	PBDE	blood:	n/a	n/a
13	IRF1	chr8:131355211-131356124	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:
2	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
3	chr8:131295881..131297673-chr8:131355533..131357143,2	K562	blood:
4	chr8:131354026..131357067-chr8:131366453..131369277,3	K562	blood:
5	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11779293	1.00[CHB][hapmap]
rs16904217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6470810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73409328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7816822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7833272	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
4	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
8	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
12	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
13	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:131348600-131358800	Weak transcription	Gastric	stomach
17	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:131350400-131356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:131350600-131356400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131350600-131357000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:131350800-131356800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:131351200-131356600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:131351200-131356600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:131351200-131356800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:131351200-131357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:131351200-131357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:131351200-131357800	Weak transcription	HSMMtube	muscle
31	chr8:131351200-131358000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:131351400-131358000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:131351600-131356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:131351600-131359000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:131352200-131356200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:131352800-131356800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:131353400-131356200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131353800-131357800	Weak transcription	Fetal Thymus	thymus
39	chr8:131353800-131367600	Weak transcription	Dnd41	blood
40	chr8:131354000-131356000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:131354000-131358000	Weak transcription	HMEC	breast
42	chr8:131354000-131358600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:131354200-131356000	Enhancers	Brain Substantia Nigra	brain
44	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:131354400-131356000	Enhancers	Brain Hippocampus Middle	brain
46	chr8:131354400-131358400	Weak transcription	Thymus	Thymus
47	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
48	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
50	chr8:131354600-131356400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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