Variant report

Variant	rs1894389
Chromosome Location	chr3:46435615-46435616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46435557..46438302-chr3:46445017..46447658,3	MCF-7	breast:
2	chr3:46435342..46437357-chr3:46438783..46441176,2	K562	blood:
3	chr3:46434903..46437048-chr3:46441452..46445081,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17141006	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17141010	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17141081	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1799864	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1800024	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34138562	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35728689	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3918357	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3918363	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3918364	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62242983	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62242995	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62246129	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62246130	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62246140	0.90[ASN][1000 genomes]
rs62246142	0.90[ASN][1000 genomes]
rs6441978	0.89[JPT][hapmap]
rs7615686	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7632215	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
2	chr3:46425400-46441800	Weak transcription	Stomach Mucosa	stomach
3	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:46432400-46438200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46432600-46437400	Enhancers	Placenta	Placenta
7	chr3:46433400-46437000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:46433600-46436800	Enhancers	Dnd41	blood
9	chr3:46434000-46436600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:46434200-46437800	Enhancers	Fetal Intestine Large	intestine
11	chr3:46434400-46436000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:46434400-46437200	Enhancers	Hela-S3	cervix
13	chr3:46434400-46438200	Enhancers	Adipose Nuclei	Adipose
14	chr3:46434600-46435800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:46434600-46437600	Enhancers	Fetal Intestine Small	intestine
16	chr3:46434600-46438000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:46434600-46438600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:46435000-46436000	Enhancers	K562	blood
19	chr3:46435200-46435800	Enhancers	Right Atrium	heart
20	chr3:46435200-46436000	Enhancers	GM12878-XiMat	blood
21	chr3:46435200-46436200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:46435200-46439000	Enhancers	Spleen	Spleen
23	chr3:46435400-46435800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:46435400-46436600	Weak transcription	HMEC	breast
25	chr3:46435400-46436800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:46435400-46437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:46435400-46438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:46435400-46440800	Weak transcription	Esophagus	oesophagus
29	chr3:46435600-46436000	Enhancers	Brain Anterior Caudate	brain
30	chr3:46435600-46437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:46435600-46437400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:46435600-46437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:46435600-46439200	Enhancers	Lung	lung

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