Variant report

Variant	rs10490771
Chromosome Location	chr3:46442052-46442053
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46441887..46442673-chr3:46529916..46530717,2	K562	blood:
2	chr3:46434903..46437048-chr3:46441452..46445081,4	K562	blood:
3	chr3:46436463..46438554-chr3:46441253..46442786,2	K562	blood:
4	chr3:46427138..46428924-chr3:46441384..46443422,2	K562	blood:
5	chr3:46441114..46442760-chr3:46445695..46448198,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11574432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1607738	0.85[AMR][1000 genomes]
rs17078932	0.85[AMR][1000 genomes]
rs17078949	0.85[AMR][1000 genomes]
rs17141109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17141112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584272	0.85[AMR][1000 genomes]
rs34158148	0.83[AFR][1000 genomes]
rs3918378	1.00[AMR][1000 genomes]
rs3918383	1.00[AMR][1000 genomes]
rs3918386	1.00[AMR][1000 genomes]
rs41469351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41475349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41499550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463007	0.87[AMR][1000 genomes]
rs57571354	0.85[AMR][1000 genomes]
rs58970771	0.85[AMR][1000 genomes]
rs59568150	0.85[AMR][1000 genomes]
rs60700685	0.85[AMR][1000 genomes]
rs61151866	0.85[AMR][1000 genomes]
rs61389423	0.85[AMR][1000 genomes]
rs61550542	0.85[AMR][1000 genomes]
rs61740461	0.85[AMR][1000 genomes]
rs72900271	0.85[AMR][1000 genomes]
rs72900273	0.85[AMR][1000 genomes]
rs72900285	0.85[AMR][1000 genomes]
rs72900298	0.85[AMR][1000 genomes]
rs72902113	0.85[AMR][1000 genomes]
rs72902116	0.85[AMR][1000 genomes]
rs72902152	0.85[AMR][1000 genomes]
rs72904172	0.85[AMR][1000 genomes]
rs72906018	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:46437200-46446800	Weak transcription	Hela-S3	cervix
4	chr3:46437600-46445000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:46438200-46443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46438600-46447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:46438800-46447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
10	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
11	chr3:46440400-46443000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:46440400-46443000	Enhancers	K562	blood
13	chr3:46440600-46442200	Enhancers	Lung	lung
14	chr3:46440600-46442400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:46440600-46442800	Enhancers	NHLF	lung
16	chr3:46440800-46442200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:46440800-46442200	Enhancers	NH-A	brain
18	chr3:46440800-46442400	Enhancers	Fetal Heart	heart
19	chr3:46441000-46442200	Weak transcription	Spleen	Spleen
20	chr3:46441000-46442400	Enhancers	HSMMtube	muscle
21	chr3:46441000-46446200	Weak transcription	Adipose Nuclei	Adipose
22	chr3:46441200-46442400	Enhancers	HSMM	muscle
23	chr3:46441600-46442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:46441600-46442400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:46441600-46446000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:46441600-46446200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:46441800-46442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:46441800-46442800	Enhancers	Fetal Lung	lung
29	chr3:46441800-46445800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr3:46441800-46446400	Weak transcription	HUVEC	blood vessel
31	chr3:46442000-46442200	Weak transcription	Stomach Mucosa	stomach

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