Variant report

Variant	rs559448254
Chromosome Location	chr16:81593478-81593479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
2	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
3	chr16:81587032..81590904-chr16:81592569..81595083,4	K562	blood:
4	chr16:81591701..81593949-chr16:81629587..81632188,2	MCF-7	breast:
5	chr16:81587793..81589565-chr16:81593147..81594914,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
2	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
5	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
7	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
8	chr16:81587000-81596600	Weak transcription	Brain Angular Gyrus	brain
9	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81587400-81594200	Weak transcription	Osteobl	bone
11	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
12	chr16:81587600-81594200	Weak transcription	NH-A	brain
13	chr16:81587600-81594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:81588200-81596600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:81588400-81594200	Weak transcription	HUVEC	blood vessel
19	chr16:81589200-81598800	Weak transcription	Thymus	Thymus
20	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
21	chr16:81589400-81598800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:81589600-81594200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:81589800-81595800	Weak transcription	Fetal Stomach	stomach
24	chr16:81590000-81597600	Genic enhancers	HepG2	liver
25	chr16:81590400-81594200	Weak transcription	Dnd41	blood
26	chr16:81590600-81594200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:81590600-81595600	Enhancers	Fetal Intestine Large	intestine
28	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:81590800-81593600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr16:81590800-81594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:81590800-81594400	Weak transcription	NHLF	lung
32	chr16:81591000-81594200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:81591400-81594000	Weak transcription	NHDF-Ad	bronchial
34	chr16:81591400-81594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81592000-81594800	Weak transcription	Spleen	Spleen
36	chr16:81592200-81595600	Enhancers	Stomach Mucosa	stomach
37	chr16:81592200-81599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:81592200-81599400	Weak transcription	Primary T cells from cord blood	blood
39	chr16:81592400-81594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:81592400-81595000	Enhancers	Fetal Intestine Small	intestine
41	chr16:81592400-81595600	Weak transcription	Right Atrium	heart
42	chr16:81592400-81595600	Weak transcription	Right Ventricle	heart
43	chr16:81592400-81596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:81592600-81594400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:81592600-81594800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:81592600-81595800	Weak transcription	Esophagus	oesophagus
48	chr16:81592600-81597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:81592600-81597400	Weak transcription	Fetal Brain Male	brain
50	chr16:81592600-81598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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