Variant report

Variant	rs538877000
Chromosome Location	chr16:70284465-70284466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70284426-70289079	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
2	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
3	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
4	chr16:70279273..70282169-chr16:70284255..70286204,3	K562	blood:
5	chr16:70279244..70282169-chr16:70284255..70286230,4	K562	blood:
6	chr16:70284251..70286200-chr16:70298122..70301114,5	MCF-7	breast:
7	chr16:70283799..70285737-chr6:44213868..44216847,2	K562	blood:
8	chr16:70191657..70193675-chr16:70283732..70285560,2	K562	blood:
9	chr16:70283625..70285831-chr16:70321379..70323186,2	K562	blood:
10	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261556	TF binding region
ENSG00000265230	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000261556	Chromatin interaction
ENSG00000168872	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv20058	chr16:70145134-70285081	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1796562	chr16:70206819-70289517	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1825452	chr16:70206819-70289517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	esv14657	chr16:70234205-70284981	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv978165	chr16:70244012-70286115	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	esv1826506	chr16:70253919-70287669	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv3338628	chr16:70283151-70287449	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
20	esv3505211	chr16:70284351-70286799	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
21	esv3505212	chr16:70284351-70286799	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
4	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:70261800-70284800	Weak transcription	Lung	lung
7	chr16:70265400-70284800	Weak transcription	HSMMtube	muscle
8	chr16:70275600-70284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70280400-70284800	Weak transcription	Psoas Muscle	Psoas
10	chr16:70281600-70284800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr16:70282400-70284600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr16:70282400-70284800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:70282600-70284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:70283000-70284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:70283000-70284600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:70283000-70284600	Enhancers	Primary B cells from cord blood	blood
17	chr16:70283000-70284600	Enhancers	Small Intestine	intestine
18	chr16:70283000-70284800	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:70283000-70284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr16:70283000-70285800	Active TSS	GM12878-XiMat	blood
21	chr16:70283200-70284600	Enhancers	Fetal Muscle Trunk	muscle
22	chr16:70283400-70284600	Enhancers	Primary hematopoietic stem cells	blood
23	chr16:70283400-70284600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr16:70283400-70284600	Enhancers	Colon Smooth Muscle	Colon
25	chr16:70283400-70284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr16:70283400-70284600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr16:70283400-70284600	Genic enhancers	Fetal Stomach	stomach
28	chr16:70283400-70284600	Enhancers	Left Ventricle	heart
29	chr16:70283400-70284600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr16:70283400-70284800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr16:70283400-70284800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:70283400-70285400	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr16:70283400-70286000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:70283400-70286000	Active TSS	A549	lung
35	chr16:70283600-70284600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:70283600-70284600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:70283600-70284800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:70283600-70284800	Active TSS	Brain Germinal Matrix	brain
39	chr16:70283600-70286000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:70283600-70286000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:70283600-70286000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr16:70283600-70286000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr16:70283600-70286000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:70283600-70286200	Active TSS	Hela-S3	cervix
45	chr16:70283800-70284600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr16:70283800-70284800	Weak transcription	Stomach Mucosa	stomach
47	chr16:70283800-70286000	Active TSS	K562	blood
48	chr16:70284000-70284600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr16:70284000-70284600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:70284000-70284800	Enhancers	Brain Anterior Caudate	brain

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