Variant report

Variant	rs10081509
Chromosome Location	chr8:61150249-61150250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61148922..61152110-chr8:61192037..61194649,3	K562	blood:
2	chr8:61086260..61087963-chr8:61146884..61150490,3	K562	blood:
3	chr8:61149598..61151950-chr8:61152260..61155123,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11784742	0.93[GIH][hapmap];0.82[EUR][1000 genomes]
rs12549573	0.82[EUR][1000 genomes]
rs4738799	0.82[EUR][1000 genomes]
rs62511580	0.82[EUR][1000 genomes]
rs6987086	0.82[EUR][1000 genomes]
rs7462315	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10081509	CYP7A1	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
2	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:61138400-61150400	Weak transcription	A549	lung
4	chr8:61142400-61151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:61142600-61151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:61144200-61151600	Enhancers	Fetal Intestine Large	intestine
7	chr8:61148600-61150600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:61148600-61150600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:61148600-61151000	Enhancers	Fetal Intestine Small	intestine
10	chr8:61148800-61150600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:61149400-61150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:61149400-61150400	Enhancers	Right Atrium	heart
13	chr8:61149400-61150800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:61149600-61150400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:61149600-61150400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:61149600-61150600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:61149600-61150600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:61149800-61150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:61149800-61150400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:61150000-61150400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61150000-61150400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:61150000-61150400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr8:61150000-61150400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr8:61150000-61150600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:61150000-61150600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:61150000-61150600	Enhancers	Left Ventricle	heart
27	chr8:61150000-61150600	Enhancers	HUVEC	blood vessel
28	chr8:61150000-61151600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:61150000-61151600	Enhancers	Fetal Thymus	thymus
30	chr8:61150000-61151800	Enhancers	Primary T cells from cord blood	blood
31	chr8:61150000-61152000	Genic enhancers	K562	blood
32	chr8:61150200-61150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:61150200-61150600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr8:61150200-61151200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:61150200-61151400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:61150200-61156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:61150200-61156800	Weak transcription	Gastric	stomach

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