Variant report

Variant	rs116553521
Chromosome Location	chr16:70286373-70286374
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70284719-70286585	HL-60	blood:	n/a	n/a
2	GTF2F1	chr16:70285680-70286790	Hela-S3	cervix:	n/a	n/a
3	UBTF	chr16:70284737-70286795	K562	blood:	n/a	n/a
4	KAP1	chr16:70285610-70286878	HEK293	kidney:	n/a	chr16:70286028-70286036
5	REST	chr16:70284832-70286384	H1-neurons	neurons:	n/a	chr16:70286002-70286015
6	MAFK	chr16:70285812-70286483	K562	blood:	n/a	n/a
7	POLR2A	chr16:70284783-70289133	Hela-S3	cervix:	n/a	n/a
8	PML	chr16:70285447-70286868	K562	blood:	n/a	chr16:70286028-70286036
9	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
10	CEBPD	chr16:70285569-70286448	K562	blood:	n/a	n/a
11	POLR2A	chr16:70285388-70287440	U87	brain:	n/a	n/a
12	PML	chr16:70285524-70287028	K562	blood:	n/a	chr16:70286028-70286036
13	BCL3	chr16:70285545-70286396	K562	blood:	n/a	chr16:70285921-70285929
14	POLR2A	chr16:70284782-70289143	K562	blood:	n/a	n/a
15	ELK4	chr16:70285638-70286375	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr16:70284880-70286755	A549	lung:	n/a	n/a
17	POLR2A	chr16:70285482-70286732	PANC-1	pancreas:	n/a	n/a
18	MXI1	chr16:70284638-70286919	IMR90	lung:	n/a	n/a
19	POLR2A	chr16:70284783-70288194	K562	blood:	n/a	n/a
20	MXI1	chr16:70284595-70286426	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr16:70286285-70287348	H1-hESC	embryonic stem cell:	n/a	n/a
22	MTA3	chr16:70285437-70286484	GM12878	blood:	n/a	n/a
23	MAX	chr16:70284717-70286465	K562	blood:	n/a	n/a
24	POLR2A	chr16:70285576-70286484	K562	blood:	n/a	n/a
25	POLR2A	chr16:70284703-70288988	HL-60	blood:	n/a	n/a
26	POLR2A	chr16:70284861-70289098	K562	blood:	n/a	n/a
27	CTCF	chr16:70286358-70286883	K562	blood:	n/a	n/a
28	POLR2A	chr16:70284659-70289218	K562	blood:	n/a	n/a
29	POLR2A	chr16:70284876-70289138	K562	blood:	n/a	n/a
30	ZNF143	chr16:70285669-70286864	K562	blood:	n/a	n/a
31	POLR2A	chr16:70284905-70286539	MCF-7	breast:	n/a	n/a
32	POLR2A	chr16:70284764-70290858	K562	blood:	n/a	n/a
33	JUND	chr16:70285735-70286374	GM12878	blood:	n/a	chr16:70286201-70286212
34	SP1	chr16:70286223-70286854	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr16:70284860-70286873	K562	blood:	n/a	n/a
36	POLR2A	chr16:70284426-70289079	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUN	chr16:70285518-70287061	K562	blood:	n/a	chr16:70286201-70286212 chr16:70286829-70286841
38	USF2	chr16:70284875-70288484	Hela-S3	cervix:	n/a	chr16:70287428-70287444
39	BCL3	chr16:70285551-70286540	K562	blood:	n/a	chr16:70285921-70285929
40	HCFC1	chr16:70284694-70286957	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr16:70284734-70287256	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr16:70284946-70286392	GM12892	blood:	n/a	n/a
43	POLR2A	chr16:70285551-70286394	HepG2	liver:	n/a	n/a
44	MXI1	chr16:70285641-70286536	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr16:70285526-70287562	K562	blood:	n/a	n/a
46	CTCF	chr16:70284797-70288395	SK-N-SH	brain:	n/a	chr16:70286194-70286207 chr16:70285927-70285936 chr16:70286197-70286210
47	JUND	chr16:70285613-70286866	K562	blood:	n/a	chr16:70286201-70286212 chr16:70286829-70286841
48	CHD2	chr16:70284939-70287070	K562	blood:	n/a	n/a
49	NRF1	chr16:70284990-70286452	SK-N-SH	brain:	n/a	chr16:70285879-70285890
50	MAFF	chr16:70285815-70286377	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70286329-70286379	GM19239	blood:	n/a
2	chr16:70286329-70286379	GM12891	blood:	n/a
3	chr16:70286329-70286379	HCT-116	colon:	n/a
4	chr16:70286346-70286396	HUVEC	blood vessel:	n/a
5	chr16:70286329-70286379	SAEC	small airway:	n/a
6	chr16:70286346-70286396	GM12878	blood:	n/a
7	chr16:70286346-70286396	GM12891	blood:	n/a
8	chr16:70286346-70286396	HPAEpiC	pulmonary alveolar:	n/a
9	chr16:70286329-70286379	HNPCEpiC	eye:	n/a
10	chr16:70286329-70286379	HRE	kidney:	n/a
11	chr16:70286329-70286379	AG04449	skin:	fetal
12	chr16:70286329-70286379	NHDF-neo	bronchial:	n/a
13	chr16:70286329-70286379	HEK293	kidney:	embryo
14	chr16:70286346-70286396	HRE	kidney:	n/a
15	chr16:70286329-70286379	HCM	heart:	n/a
16	chr16:70286329-70286379	U87	brain:	n/a
17	chr16:70286346-70286396	PFSK-1	brain:	n/a
18	chr16:70286329-70286379	HIPEpiC	eye:	n/a
19	chr16:70286329-70286379	Caco-2	colon:	n/a
20	chr16:70286346-70286396	ProgFib	skin:	n/a
21	chr16:70286329-70286379	SK-N-SH	brain:	n/a
22	chr16:70286346-70286396	GM12892	blood:	n/a
23	chr16:70286329-70286379	MCF-7	breast:	n/a
24	chr16:70286329-70286379	SK-N-SH_RA	brain:	n/a
25	chr16:70286346-70286396	IMR90	lung:	fetal
26	chr16:70286346-70286396	BE2_C	brain:	n/a
27	chr16:70286346-70286396	AG10803	skin:	n/a
28	chr16:70286329-70286379	GM12878	blood:	n/a
29	chr16:70286346-70286396	A549	lung:	n/a
30	chr16:70286346-70286396	NH-A	brain:	n/a
31	chr16:70286329-70286379	PANC-1	pancreas:	n/a
32	chr16:70286329-70286379	AG09319	gingival:	n/a
33	chr16:70286346-70286396	SKMC	muscle:	n/a
34	chr16:70286329-70286379	HRPEpiC	eye:	n/a
35	chr16:70286346-70286396	CMK	blood:	n/a
36	chr16:70286329-70286379	H1-hESC	embryonic stem cell:	embryo
37	chr16:70286346-70286396	HNPCEpiC	eye:	n/a
38	chr16:70286346-70286396	SK-N-SH_RA	brain:	n/a
39	chr16:70286329-70286379	HRCEpiC	kidney:	n/a
40	chr16:70286329-70286379	CMK	blood:	n/a
41	chr16:70286346-70286396	HCPEpiC	choroid plexus:	n/a
42	chr16:70286346-70286396	HAEpiC	amniotic membrane:	n/a
43	chr16:70286329-70286379	AG09309	skin:	n/a
44	chr16:70286329-70286379	K562	blood:	n/a
45	chr16:70286329-70286379	HCPEpiC	choroid plexus:	n/a
46	chr16:70286346-70286396	MCF-7	breast:	n/a
47	chr16:70286329-70286379	HUVEC	blood vessel:	n/a
48	chr16:70286329-70286379	AG10803	skin:	n/a
49	chr16:70286329-70286379	BJ	skin:	n/a
50	chr16:70286346-70286396	HCM	heart:	n/a

(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
EXOSC6	CpG island
ENSG00000132470	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000265648	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157349	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	chr16:70284800-70286400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:70285000-70289800	Weak transcription	Fetal Brain Male	brain
3	chr16:70285800-70286400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:70285800-70286400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:70285800-70286400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr16:70285800-70286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:70285800-70286400	Weak transcription	Aorta	Aorta
8	chr16:70285800-70286400	Weak transcription	Psoas Muscle	Psoas
9	chr16:70285800-70286800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
11	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:70286000-70286400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:70286000-70286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:70286000-70286400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:70286000-70286400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr16:70286000-70286400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr16:70286000-70286400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr16:70286000-70286400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:70286000-70286400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr16:70286000-70286400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:70286000-70286400	Weak transcription	Adipose Nuclei	Adipose
22	chr16:70286000-70286400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
23	chr16:70286000-70286400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:70286000-70286400	Enhancers	Fetal Heart	heart
25	chr16:70286000-70286400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:70286000-70286400	Weak transcription	Left Ventricle	heart
27	chr16:70286000-70286400	Weak transcription	Small Intestine	intestine
28	chr16:70286000-70286400	Transcr. at gene 5' and 3'	Thymus	Thymus
29	chr16:70286000-70286400	Transcr. at gene 5' and 3'	K562	blood
30	chr16:70286000-70286400	Transcr. at gene 5' and 3'	NHEK	skin
31	chr16:70286000-70286600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr16:70286000-70286600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:70286000-70286800	Weak transcription	Ovary	ovary
34	chr16:70286000-70286800	Genic enhancers	Pancreas	Pancrea
35	chr16:70286000-70287200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:70286000-70287200	Strong transcription	Right Atrium	heart
37	chr16:70286000-70287400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:70286000-70288000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:70286000-70288000	Strong transcription	HUVEC	blood vessel
40	chr16:70286000-70288800	Strong transcription	Fetal Lung	lung
41	chr16:70286000-70291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:70286000-70291400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
45	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
46	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
47	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
49	chr16:70286000-70316400	Strong transcription	Liver	Liver
50	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine

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