Variant report

Variant	rs2476940
Chromosome Location	chr9:79105850-79105851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1085341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144923	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11144926	0.81[AFR][1000 genomes]
rs2476941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496253	0.83[ASN][1000 genomes]
rs503222	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553806	0.86[ASN][1000 genomes]
rs553927	0.86[ASN][1000 genomes]
rs566470	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs570212	0.85[ASN][1000 genomes]
rs587111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587171	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590666	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631887	0.86[ASN][1000 genomes]
rs634064	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs664013	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs785927	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
2	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:79081800-79117200	Weak transcription	Gastric	stomach
4	chr9:79082600-79117600	Weak transcription	NHLF	lung
5	chr9:79087600-79117400	Weak transcription	Colonic Mucosa	Colon
6	chr9:79089000-79116400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:79091200-79108800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
9	chr9:79093600-79111400	Weak transcription	NHDF-Ad	bronchial
10	chr9:79093600-79117200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:79093800-79109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:79093800-79116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:79093800-79117000	Weak transcription	HMEC	breast
14	chr9:79093800-79118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:79094200-79120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:79097200-79117200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:79100800-79108000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:79101000-79106600	Enhancers	Stomach Mucosa	stomach
19	chr9:79101200-79106800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:79101200-79116400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:79101600-79106600	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:79101600-79107600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:79101600-79108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:79102200-79111400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:79102800-79107000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:79103800-79106200	Weak transcription	Left Ventricle	heart
27	chr9:79103800-79117200	Weak transcription	Lung	lung
28	chr9:79103800-79117800	Weak transcription	Thymus	Thymus
29	chr9:79104200-79108800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:79104200-79110400	Weak transcription	HSMM	muscle
31	chr9:79104200-79117400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:79104400-79108200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:79104400-79109000	Weak transcription	Osteobl	bone
34	chr9:79104400-79117400	Weak transcription	Small Intestine	intestine
35	chr9:79104600-79106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:79104600-79107000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:79104600-79117600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:79104800-79106000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:79104800-79107400	Weak transcription	Fetal Intestine Small	intestine
40	chr9:79105200-79106000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:79105200-79106200	Enhancers	HUVEC	blood vessel
42	chr9:79105200-79106400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:79105200-79108800	Weak transcription	Fetal Intestine Large	intestine
44	chr9:79105400-79106200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:79105400-79106400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:79105400-79106400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:79105400-79106600	Enhancers	Primary B cells from cord blood	blood
48	chr9:79105400-79107400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:79105600-79106000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr9:79105600-79106000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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