Variant report

Variant	rs45619735
Chromosome Location	chr16:31143993-31143994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31141772..31145245-chr16:31195885..31201101,4	MCF-7	breast:
2	chr16:31008270..31010066-chr16:31143240..31146039,2	MCF-7	breast:
3	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
4	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:
5	chr16:31118494..31122515-chr16:31143591..31148259,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252809	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11645814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11649030	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17855606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17880887	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4404083	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56388508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56404782	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72785546	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785547	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31145000	Strong transcription	Fetal Brain Female	brain
2	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:31130600-31144400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:31130600-31144800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:31130600-31144800	Strong transcription	Thymus	Thymus
6	chr16:31130600-31145000	Weak transcription	Fetal Heart	heart
7	chr16:31130600-31145200	Strong transcription	Fetal Stomach	stomach
8	chr16:31130800-31144200	Strong transcription	Liver	Liver
9	chr16:31130800-31145000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:31132400-31145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:31132400-31146000	Weak transcription	Hela-S3	cervix
12	chr16:31133800-31146200	Weak transcription	Fetal Brain Male	brain
13	chr16:31134000-31144200	Weak transcription	HUVEC	blood vessel
14	chr16:31134000-31145600	Weak transcription	Fetal Kidney	kidney
15	chr16:31134600-31144400	Strong transcription	Brain Germinal Matrix	brain
16	chr16:31135400-31144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr16:31137200-31144200	Strong transcription	Dnd41	blood
19	chr16:31137200-31144400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:31137400-31144600	Strong transcription	Spleen	Spleen
21	chr16:31138000-31144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:31138200-31144200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:31138200-31144200	Strong transcription	Left Ventricle	heart
24	chr16:31138200-31144400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:31138200-31144600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:31138200-31145200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:31138400-31144000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:31138400-31144200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:31138400-31144800	Strong transcription	Colon Smooth Muscle	Colon
30	chr16:31138600-31144400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:31138600-31144600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr16:31139000-31145000	Genic enhancers	Placenta	Placenta
33	chr16:31139400-31145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:31139600-31144800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:31139600-31145000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:31139600-31145000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:31140200-31145400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:31140200-31145600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
41	chr16:31140600-31144200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
42	chr16:31140600-31144800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:31140600-31145000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:31140800-31144000	Strong transcription	Right Ventricle	heart
45	chr16:31140800-31144400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:31141000-31145000	Genic enhancers	NHEK	skin
47	chr16:31141000-31145800	Weak transcription	Right Atrium	heart
48	chr16:31141200-31144000	Strong transcription	Brain Substantia Nigra	brain
49	chr16:31141200-31144200	Weak transcription	K562	blood
50	chr16:31141200-31144600	Strong transcription	Brain Cingulate Gyrus	brain

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