Variant report

Variant	rs55845142
Chromosome Location	chr9:71476513-71476514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71474756..71477086-chr9:71501374..71504122,2	K562	blood:
2	chr9:71472846..71475720-chr9:71476283..71478210,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10511961	0.84[ASN][1000 genomes]
rs10781249	0.85[ASN][1000 genomes]
rs10869422	0.83[ASN][1000 genomes]
rs10869434	0.95[ASN][1000 genomes]
rs10869440	0.88[ASN][1000 genomes]
rs10869441	0.88[ASN][1000 genomes]
rs10869451	0.84[ASN][1000 genomes]
rs11144011	0.83[ASN][1000 genomes]
rs11144057	0.90[ASN][1000 genomes]
rs11144066	0.88[ASN][1000 genomes]
rs11144133	0.84[ASN][1000 genomes]
rs11144167	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11999960	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12551225	0.86[AMR][1000 genomes]
rs12553327	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12555750	0.81[AMR][1000 genomes]
rs17391596	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17391840	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17392861	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17392931	0.90[ASN][1000 genomes]
rs17482797	0.84[AMR][1000 genomes]
rs17483533	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027204	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4120640	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4626674	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55671140	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55830509	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61221055	0.82[AMR][1000 genomes]
rs62566867	0.97[ASN][1000 genomes]
rs6560397	0.91[ASN][1000 genomes]
rs66460517	0.81[AMR][1000 genomes]
rs66883415	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68060556	0.90[ASN][1000 genomes]
rs72717935	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72717955	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72720038	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72720041	0.90[ASN][1000 genomes]
rs73457664	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7867287	0.82[ASN][1000 genomes]
rs7871676	0.81[EUR][1000 genomes]
rs7875396	0.80[EUR][1000 genomes]
rs883951	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
4	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
5	chr9:71459400-71480000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:71459800-71478600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:71460400-71495600	Weak transcription	Aorta	Aorta
8	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr9:71463400-71492800	Weak transcription	GM12878-XiMat	blood
10	chr9:71463600-71501800	Weak transcription	Small Intestine	intestine
11	chr9:71465800-71480200	Weak transcription	HepG2	liver
12	chr9:71466800-71478800	Weak transcription	Fetal Intestine Large	intestine
13	chr9:71467800-71495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:71468200-71486600	Weak transcription	Left Ventricle	heart
15	chr9:71470600-71483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:71471200-71478600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:71473200-71480000	Weak transcription	Fetal Intestine Small	intestine
18	chr9:71473600-71478400	Enhancers	Fetal Heart	heart
19	chr9:71474600-71476600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:71474600-71478000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:71474600-71478000	Weak transcription	Primary B cells from cord blood	blood
22	chr9:71474600-71492400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:71474800-71501800	Weak transcription	Right Ventricle	heart
24	chr9:71475000-71480400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:71475400-71476600	Weak transcription	Gastric	stomach
26	chr9:71476200-71476600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:71476200-71477000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:71476200-71477000	Enhancers	K562	blood
29	chr9:71476200-71477200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:71476400-71476600	Enhancers	Right Atrium	heart
31	chr9:71476400-71476800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:71476400-71476800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:71476400-71477000	Enhancers	HUES64 Cell Line	embryonic stem cell

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