Variant report

Variant	rs13287251
Chromosome Location	chr9:110067677-110067678
allele	A/G
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	chr9:110067162-110067708	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:110066778-110068117	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:
2	chr9:110044750..110046904-chr9:110066196..110068105,2	K562	blood:
3	chr9:110066546..110068820-chr9:110070099..110072888,2	K562	blood:
4	chr9:110060491..110063428-chr9:110066349..110068184,2	MCF-7	breast:

Variant related genes	Relation type
RAD23B	TF binding region
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10868	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573607	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573662	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573703	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573709	1.00[ASN][1000 genomes]
rs11573711	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11573721	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379885	1.00[ASN][1000 genomes]
rs12379895	1.00[ASN][1000 genomes]
rs1805331	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593991	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731486	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34745099	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218924	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494237	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35626978	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35827173	1.00[ASN][1000 genomes]
rs35865856	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35967129	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36016101	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36089467	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161943	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66495692	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66539130	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67630898	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71495992	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716004	1.00[ASN][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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	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	chr9:110048800-110067800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:110048800-110069600	Weak transcription	Fetal Brain Male	brain
3	chr9:110049400-110067800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:110052600-110068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:110052600-110068600	Weak transcription	Brain Germinal Matrix	brain
7	chr9:110052600-110068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:110052600-110069200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:110053400-110068600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:110055600-110068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:110055800-110068600	Weak transcription	Fetal Brain Female	brain
12	chr9:110055800-110068600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:110056800-110068600	Weak transcription	Lung	lung
14	chr9:110057200-110068800	Weak transcription	Brain Substantia Nigra	brain
15	chr9:110057200-110079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:110057400-110068600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:110057400-110068600	Weak transcription	Esophagus	oesophagus
18	chr9:110057400-110068600	Weak transcription	Gastric	stomach
19	chr9:110057400-110074600	Weak transcription	Spleen	Spleen
20	chr9:110057400-110074800	Weak transcription	Psoas Muscle	Psoas
21	chr9:110058000-110068600	Weak transcription	Aorta	Aorta
22	chr9:110058600-110068600	Weak transcription	Right Ventricle	heart
23	chr9:110058600-110074800	Weak transcription	Right Atrium	heart
24	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
25	chr9:110059800-110068600	Weak transcription	Pancreas	Pancrea
26	chr9:110060200-110070000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:110061400-110068600	Weak transcription	Brain Angular Gyrus	brain
28	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:110061600-110073400	Strong transcription	K562	blood
30	chr9:110061800-110067800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:110061800-110068400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:110061800-110068600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr9:110061800-110068800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr9:110062000-110068600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:110062000-110068600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:110062000-110068600	Weak transcription	Brain Anterior Caudate	brain
37	chr9:110062000-110068600	Weak transcription	Colon Smooth Muscle	Colon
38	chr9:110062000-110068600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:110062000-110068800	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:110062000-110076000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:110062000-110078000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:110062200-110068600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:110062400-110077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:110062400-110078600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:110062600-110078800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:110062800-110077600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:110063000-110070600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:110063000-110073200	Strong transcription	GM12878-XiMat	blood
49	chr9:110063000-110077200	Strong transcription	A549	lung
50	chr9:110063000-110078200	Strong transcription	Primary monocytes fromperipheralblood	blood

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