Variant report

Variant	rs2187674
Chromosome Location	chr3:46444405-46444406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46434903..46437048-chr3:46441452..46445081,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11266744	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11574433	0.98[AFR][1000 genomes]
rs11575815	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11575816	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800023	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1800874	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2213290	0.84[AFR][1000 genomes]
rs2254089	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2734225	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2734648	0.82[EUR][1000 genomes]
rs2856757	0.84[AFR][1000 genomes]
rs2856764	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2856765	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3087252	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3181039	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3204849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34682274	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41515644	0.80[AFR][1000 genomes]
rs4560336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683220	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683222	0.86[ASN][1000 genomes]
rs4683223	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66484806	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs916091	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][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:25 , 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	chr3:46438600-46447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:46438800-46447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
9	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
10	chr3:46441000-46446200	Weak transcription	Adipose Nuclei	Adipose
11	chr3:46441600-46446000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:46441600-46446200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:46441800-46445800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:46441800-46446400	Weak transcription	HUVEC	blood vessel
15	chr3:46442200-46445000	Weak transcription	Lung	lung
16	chr3:46442400-46445000	Weak transcription	Stomach Mucosa	stomach
17	chr3:46442400-46446800	Weak transcription	Fetal Heart	heart
18	chr3:46442400-46447200	Weak transcription	HSMM	muscle
19	chr3:46442400-46448400	Weak transcription	HSMMtube	muscle
20	chr3:46442600-46448200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:46442800-46446800	Weak transcription	NHLF	lung
22	chr3:46443000-46446200	Weak transcription	K562	blood
23	chr3:46443200-46445000	Weak transcription	Spleen	Spleen
24	chr3:46443200-46447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:46443200-46448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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