Variant report

Variant	rs563439054
Chromosome Location	chr16:75267970-75267971
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75267417..75268393-chr16:75419148..75420038,5	K562	blood:
2	chr16:75267828..75268434-chr16:75419147..75419726,2	MCF-7	breast:
3	chr16:75266448..75270263-chr16:75270931..75275548,5	MCF-7	breast:
4	chr16:75267476..75268387-chr16:75418859..75420095,9	MCF-7	breast:
5	chr16:75267448..75268347-chr16:75436501..75437210,4	MCF-7	breast:
6	chr16:75232930..75233869-chr16:75267627..75268399,2	MCF-7	breast:
7	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
8	chr16:75267671..75268417-chr16:75284819..75286056,3	MCF-7	breast:
9	chr16:75267519..75268404-chr16:75418326..75418893,2	MCF-7	breast:
10	chr16:75266627..75269823-chr16:75278974..75282464,4	K562	blood:
11	chr16:75266181..75268162-chr16:75280238..75282418,2	K562	blood:
12	chr16:75267887..75268393-chr16:75436507..75437336,2	K562	blood:
13	chr16:75266558..75268435-chr16:75272216..75274328,2	K562	blood:
14	chr16:75257846..75260546-chr16:75267486..75270015,2	MCF-7	breast:
15	chr16:75267412..75268233-chr16:75376465..75377161,3	MCF-7	breast:
16	chr16:75267848..75268380-chr16:75436252..75437086,4	MCF-7	breast:
17	chr16:75267503..75268378-chr16:75435534..75436159,3	K562	blood:
18	chr16:75267753..75268373-chr16:75301380..75301881,2	MCF-7	breast:
19	chr16:75259171..75262723-chr16:75263223..75268032,5	MCF-7	breast:
20	chr16:75265003..75270372-chr16:75282943..75286802,5	K562	blood:
21	chr16:75267868..75268502-chr16:75797477..75798284,3	K562	blood:
22	chr16:75267679..75270167-chr16:75298164..75300963,4	K562	blood:
23	chr16:75267386..75268402-chr16:75299374..75300473,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240338	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
2	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
3	chr16:75261000-75268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:75261000-75268000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:75261200-75268000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr16:75261400-75268000	Strong transcription	Esophagus	oesophagus
7	chr16:75261400-75268000	Strong transcription	Gastric	stomach
8	chr16:75261400-75268000	Strong transcription	HUVEC	blood vessel
9	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:75261600-75268000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:75261600-75268000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:75261600-75268000	Strong transcription	NHEK	skin
14	chr16:75261800-75268000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:75261800-75268000	Strong transcription	HepG2	liver
16	chr16:75261800-75268000	Weak transcription	K562	blood
17	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:75262000-75268000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:75262000-75268000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr16:75262000-75270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:75263000-75271600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
26	chr16:75263600-75268000	Strong transcription	HSMM	muscle
27	chr16:75263600-75271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:75264000-75268400	Weak transcription	Aorta	Aorta
29	chr16:75264200-75268200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:75264400-75269000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:75264800-75271800	Strong transcription	Osteobl	bone
33	chr16:75265200-75272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:75265400-75268000	Strong transcription	A549	lung
35	chr16:75265600-75268000	Strong transcription	Hela-S3	cervix
36	chr16:75266200-75268000	Strong transcription	Fetal Lung	lung
37	chr16:75266400-75268000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr16:75266400-75268000	Strong transcription	Left Ventricle	heart
39	chr16:75266400-75269200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:75266400-75271000	Strong transcription	Brain Germinal Matrix	brain
41	chr16:75266400-75271200	Strong transcription	Fetal Brain Female	brain
42	chr16:75266400-75272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:75266600-75269000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:75266600-75269600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:75266600-75272200	Strong transcription	Lung	lung
46	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:75267000-75268200	Weak transcription	HSMMtube	muscle
48	chr16:75267000-75268600	Genic enhancers	Fetal Stomach	stomach
49	chr16:75267200-75268000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:75267200-75271400	Genic enhancers	Brain Hippocampus Middle	brain

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