Variant report

Variant	rs559443649
Chromosome Location	chr16:70286563-70286564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70286481-70286976	HepG2	liver:	n/a	n/a
2	CTCF	chr16:70286407-70286888	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70284719-70286585	HL-60	blood:	n/a	n/a
4	GTF2F1	chr16:70285680-70286790	Hela-S3	cervix:	n/a	n/a
5	UBTF	chr16:70284737-70286795	K562	blood:	n/a	n/a
6	KAP1	chr16:70285610-70286878	HEK293	kidney:	n/a	chr16:70286028-70286036
7	CTCF	chr16:70286486-70286848	K562	blood:	n/a	n/a
8	SMC3	chr16:70286533-70286733	K562	blood:	n/a	n/a
9	POLR2A	chr16:70286403-70287233	HepG2	liver:	n/a	n/a
10	RAD21	chr16:70286512-70286866	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:70286520-70286670	GM12878	blood:	n/a	n/a
12	CTCF	chr16:70286489-70286849	K562	blood:	n/a	n/a
13	CTCF	chr16:70286500-70286650	WI-38	lung:	n/a	n/a
14	CTCF	chr16:70286462-70286869	K562	blood:	n/a	n/a
15	RAD21	chr16:70286468-70286842	HepG2	liver:	n/a	n/a
16	CTCF	chr16:70286475-70286871	IMR90	lung:	n/a	n/a
17	POLR2A	chr16:70284783-70289133	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr16:70286526-70286872	GM12878	blood:	n/a	n/a
19	PML	chr16:70285447-70286868	K562	blood:	n/a	chr16:70286028-70286036
20	SMC3	chr16:70286531-70286880	HepG2	liver:	n/a	n/a
21	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
22	CTCF	chr16:70286480-70286630	HAc	cerebellar:	n/a	n/a
23	RAD21	chr16:70286493-70286861	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr16:70285388-70287440	U87	brain:	n/a	n/a
25	PML	chr16:70285524-70287028	K562	blood:	n/a	chr16:70286028-70286036
26	HMGN3	chr16:70286426-70286828	K562	blood:	n/a	n/a
27	ZNF143	chr16:70286500-70286710	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr16:70286501-70286768	A549	lung:	n/a	n/a
29	POLR2A	chr16:70284782-70289143	K562	blood:	n/a	n/a
30	CTCF	chr16:70286520-70286670	HCM	heart:	n/a	n/a
31	POLR2A	chr16:70284880-70286755	A549	lung:	n/a	n/a
32	POLR2A	chr16:70285482-70286732	PANC-1	pancreas:	n/a	n/a
33	MXI1	chr16:70284638-70286919	IMR90	lung:	n/a	n/a
34	POLR2A	chr16:70284783-70288194	K562	blood:	n/a	n/a
35	POLR2A	chr16:70286285-70287348	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr16:70286537-70286809	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:70286472-70286752	GM12878	blood:	n/a	n/a
38	ZNF143	chr16:70286528-70286862	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr16:70286559-70286801	K562	blood:	n/a	n/a
40	POLR2A	chr16:70284703-70288988	HL-60	blood:	n/a	n/a
41	POLR2A	chr16:70284861-70289098	K562	blood:	n/a	n/a
42	CTCF	chr16:70286358-70286883	K562	blood:	n/a	n/a
43	CTCF	chr16:70286549-70286832	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr16:70284659-70289218	K562	blood:	n/a	n/a
45	POLR2A	chr16:70284876-70289138	K562	blood:	n/a	n/a
46	E2F4	chr16:70286382-70286756	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr16:70286554-70287001	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr16:70285669-70286864	K562	blood:	n/a	n/a
49	CTCF	chr16:70286560-70286827	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr16:70284764-70290858	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70286317..70289211-chr16:70320911..70324702,4	K562	blood:
2	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
3	chr16:70285239..70287287-chr16:70556700..70559340,2	K562	blood:
4	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
5	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:
6	chr16:70285367..70286970-chr17:73718097..73720794,2	MCF-7	breast:
7	chr16:70284505..70286615-chr16:70556732..70559559,2	MCF-7	breast:
8	chr16:70286360..70288555-chr16:70308791..70311038,2	K562	blood:
9	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
10	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
11	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:
12	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:

No data

Variant related genes	Relation type
EXOSC6	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000265648	Chromatin interaction
ENSG00000132470	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000261556	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv906869	chr16:70285901-70292810	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285000-70289800	Weak transcription	Fetal Brain Male	brain
2	chr16:70285800-70286800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
4	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:70286000-70286600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr16:70286000-70286600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:70286000-70286800	Weak transcription	Ovary	ovary
8	chr16:70286000-70286800	Genic enhancers	Pancreas	Pancrea
9	chr16:70286000-70287200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:70286000-70287200	Strong transcription	Right Atrium	heart
11	chr16:70286000-70287400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:70286000-70288000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:70286000-70288000	Strong transcription	HUVEC	blood vessel
14	chr16:70286000-70288800	Strong transcription	Fetal Lung	lung
15	chr16:70286000-70291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:70286000-70291400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
19	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
20	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
21	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
23	chr16:70286000-70316400	Strong transcription	Liver	Liver
24	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
25	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:70286000-70320400	Strong transcription	Osteobl	bone
32	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:70286200-70286600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr16:70286200-70286600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:70286200-70286600	Genic enhancers	Brain Anterior Caudate	brain
37	chr16:70286200-70286600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:70286200-70286600	Strong transcription	Stomach Mucosa	stomach
39	chr16:70286200-70286600	Genic enhancers	Dnd41	blood
40	chr16:70286200-70286600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr16:70286200-70287000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:70286200-70287000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:70286200-70287400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:70286200-70287400	Strong transcription	Esophagus	oesophagus
45	chr16:70286200-70287800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:70286200-70287800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:70286200-70288200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:70286200-70288400	Strong transcription	NH-A	brain
49	chr16:70286200-70288800	Strong transcription	Fetal Intestine Small	intestine
50	chr16:70286200-70291200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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