Variant report

Variant	rs12555680
Chromosome Location	chr9:71423046-71423047
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	chr9:71420662..71423189-chr9:71425741..71428511,3	K562	blood:
2	chr9:71398048..71400496-chr9:71420484..71423422,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10448322	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448338	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869320	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869323	0.81[EUR][1000 genomes]
rs11143761	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143777	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143882	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143900	0.82[EUR][1000 genomes]
rs11143938	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143951	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143988	1.00[ASN][1000 genomes]
rs11144063	1.00[ASN][1000 genomes]
rs11144074	1.00[ASN][1000 genomes]
rs11144136	1.00[ASN][1000 genomes]
rs11144138	1.00[ASN][1000 genomes]
rs11144152	1.00[ASN][1000 genomes]
rs11144154	1.00[ASN][1000 genomes]
rs11144158	1.00[ASN][1000 genomes]
rs11144162	1.00[ASN][1000 genomes]
rs11144163	1.00[ASN][1000 genomes]
rs11144178	1.00[ASN][1000 genomes]
rs11144181	1.00[ASN][1000 genomes]
rs11144191	1.00[ASN][1000 genomes]
rs11144215	1.00[ASN][1000 genomes]
rs11144305	1.00[ASN][1000 genomes]
rs11144327	1.00[ASN][1000 genomes]
rs11144351	1.00[ASN][1000 genomes]
rs12376037	1.00[ASN][1000 genomes]
rs12376991	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377033	1.00[ASN][1000 genomes]
rs12379061	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1414951	1.00[ASN][1000 genomes]
rs1414952	1.00[ASN][1000 genomes]
rs1414954	1.00[ASN][1000 genomes]
rs17057680	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058634	1.00[ASN][1000 genomes]
rs17058780	1.00[ASN][1000 genomes]
rs17391456	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391582	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483165	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376559	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744737	1.00[ASN][1000 genomes]
rs62552132	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566870	1.00[ASN][1000 genomes]
rs62566871	1.00[ASN][1000 genomes]
rs62566872	1.00[ASN][1000 genomes]
rs62566911	1.00[ASN][1000 genomes]
rs62566915	1.00[ASN][1000 genomes]
rs62566916	1.00[ASN][1000 genomes]
rs62569347	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569349	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62571161	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720053	1.00[ASN][1000 genomes]
rs72720061	1.00[ASN][1000 genomes]
rs72720068	1.00[ASN][1000 genomes]
rs72722034	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71404600-71431400	Weak transcription	HepG2	liver
2	chr9:71410200-71428600	Weak transcription	Aorta	Aorta
3	chr9:71414000-71437000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:71417400-71423600	Enhancers	Left Ventricle	heart
6	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:71420800-71424200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:71420800-71434600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:71421000-71424600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:71421000-71431800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:71421000-71437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:71421200-71424000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:71421200-71426000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:71421200-71437200	Weak transcription	Stomach Mucosa	stomach
15	chr9:71421200-71437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:71421400-71423800	Enhancers	Fetal Heart	heart
17	chr9:71421400-71443000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:71421600-71428000	Weak transcription	Right Atrium	heart
19	chr9:71421800-71426200	Weak transcription	Right Ventricle	heart
20	chr9:71421800-71428600	Weak transcription	Fetal Intestine Small	intestine
21	chr9:71421800-71433000	Weak transcription	Fetal Intestine Large	intestine
22	chr9:71422200-71423200	Enhancers	Primary B cells from cord blood	blood
23	chr9:71422200-71423200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:71422200-71424400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:71422400-71424400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:71422600-71434400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr9:71422600-71438200	Weak transcription	GM12878-XiMat	blood
28	chr9:71422600-71441000	Weak transcription	Fetal Stomach	stomach
29	chr9:71422800-71423200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:71422800-71423200	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:71422800-71423600	Enhancers	Fetal Brain Male	brain
32	chr9:71423000-71423200	Enhancers	Fetal Brain Female	brain
33	chr9:71423000-71423800	Active TSS	Brain Germinal Matrix	brain

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