Variant report

Variant	rs61293946
Chromosome Location	chr16:81597176-81597177
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
2	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
3	chr16:81588981..81591271-chr16:81595780..81598756,2	K562	blood:
4	chr16:81578640..81580177-chr16:81596522..81598545,2	MCF-7	breast:
5	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
6	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
7	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13331139	1.00[EUR][1000 genomes]
rs16955600	1.00[EUR][1000 genomes]
rs16955606	1.00[EUR][1000 genomes]
rs16955612	1.00[EUR][1000 genomes]
rs4243207	1.00[EUR][1000 genomes]
rs4889338	1.00[EUR][1000 genomes]
rs56360425	1.00[EUR][1000 genomes]
rs56787727	1.00[EUR][1000 genomes]
rs57177093	1.00[EUR][1000 genomes]
rs60095351	1.00[EUR][1000 genomes]
rs60730964	1.00[EUR][1000 genomes]
rs60880568	1.00[EUR][1000 genomes]
rs61079357	1.00[EUR][1000 genomes]
rs7191922	1.00[EUR][1000 genomes]
rs7191961	1.00[EUR][1000 genomes]
rs7198651	1.00[EUR][1000 genomes]
rs73594488	1.00[EUR][1000 genomes]
rs73596424	1.00[EUR][1000 genomes]
rs73596429	1.00[EUR][1000 genomes]
rs73596439	1.00[EUR][1000 genomes]
rs73596448	1.00[EUR][1000 genomes]
rs73596482	1.00[EUR][1000 genomes]
rs73596490	1.00[EUR][1000 genomes]
rs73596500	1.00[EUR][1000 genomes]
rs73596501	1.00[EUR][1000 genomes]
rs73598433	1.00[EUR][1000 genomes]
rs73598441	1.00[EUR][1000 genomes]
rs74031207	1.00[EUR][1000 genomes]
rs74031208	1.00[EUR][1000 genomes]
rs74031210	1.00[EUR][1000 genomes]
rs8057329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv2752604	chr16:81595597-81606569	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	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	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
3	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
5	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
6	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
8	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:81589200-81598800	Weak transcription	Thymus	Thymus
12	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
13	chr16:81589400-81598800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81590000-81597600	Genic enhancers	HepG2	liver
15	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:81592200-81599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:81592200-81599400	Weak transcription	Primary T cells from cord blood	blood
18	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:81592600-81597400	Weak transcription	Fetal Brain Male	brain
20	chr16:81592600-81598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:81593000-81597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:81593000-81597200	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:81593000-81600000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81593000-81601200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:81593200-81597200	Weak transcription	Brain Anterior Caudate	brain
26	chr16:81593200-81597200	Weak transcription	Brain Germinal Matrix	brain
27	chr16:81593200-81597200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:81593200-81597400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:81593200-81598800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:81593200-81601200	Weak transcription	Colonic Mucosa	Colon
31	chr16:81593200-81601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:81593400-81601200	Genic enhancers	A549	lung
37	chr16:81593400-81619200	Weak transcription	K562	blood
38	chr16:81594200-81601800	Weak transcription	Placenta	Placenta
39	chr16:81594400-81606200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:81594600-81597600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:81594600-81601200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:81594800-81597600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:81595000-81597200	Weak transcription	NH-A	brain
44	chr16:81595000-81597200	Weak transcription	NHEK	skin
45	chr16:81595000-81597600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:81595000-81597600	Weak transcription	HSMM	muscle
47	chr16:81595000-81597800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:81595000-81601200	Weak transcription	HUVEC	blood vessel
49	chr16:81595000-81601600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:81595200-81597600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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