Variant report

Variant	rs199839663
Chromosome Location	chr16:70286801-70286802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 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	KAP1	chr16:70285610-70286878	HEK293	kidney:	n/a	chr16:70286028-70286036
4	CTCF	chr16:70286486-70286848	K562	blood:	n/a	n/a
5	CTCF	chr16:70286571-70286818	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:70286403-70287233	HepG2	liver:	n/a	n/a
7	RAD21	chr16:70286512-70286866	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr16:70286660-70286810	AG09309	skin:	n/a	n/a
9	CTCF	chr16:70286489-70286849	K562	blood:	n/a	n/a
10	CTCF	chr16:70286462-70286869	K562	blood:	n/a	n/a
11	RAD21	chr16:70286468-70286842	HepG2	liver:	n/a	n/a
12	CTCF	chr16:70286475-70286871	IMR90	lung:	n/a	n/a
13	POLR2A	chr16:70284783-70289133	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr16:70286566-70286811	GM12891	blood:	n/a	n/a
15	CTCF	chr16:70286590-70286816	GM10266	blood:	n/a	n/a
16	CTCF	chr16:70286526-70286872	GM12878	blood:	n/a	n/a
17	CTCF	chr16:70286578-70286814	NHEK	skin:	n/a	n/a
18	PML	chr16:70285447-70286868	K562	blood:	n/a	chr16:70286028-70286036
19	SMC3	chr16:70286531-70286880	HepG2	liver:	n/a	n/a
20	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
21	RAD21	chr16:70286493-70286861	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr16:70285388-70287440	U87	brain:	n/a	n/a
23	PML	chr16:70285524-70287028	K562	blood:	n/a	chr16:70286028-70286036
24	HMGN3	chr16:70286426-70286828	K562	blood:	n/a	n/a
25	POLR2A	chr16:70284782-70289143	K562	blood:	n/a	n/a
26	CTCF	chr16:70286660-70286810	GM06990	blood:	n/a	n/a
27	CTCF	chr16:70286582-70286816	GM19238	blood:	n/a	n/a
28	CTCF	chr16:70286586-70286801	MCF-7	breast:	n/a	n/a
29	POLR2A	chr16:70286678-70287039	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr16:70284638-70286919	IMR90	lung:	n/a	n/a
31	POLR2A	chr16:70284783-70288194	K562	blood:	n/a	n/a
32	POLR2A	chr16:70286285-70287348	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr16:70286537-70286809	HepG2	liver:	n/a	n/a
34	CTCF	chr16:70286660-70286810	AG04450	lung:	n/a	n/a
35	POLR2A	chr16:70286564-70286972	HepG2	liver:	n/a	n/a
36	ZNF143	chr16:70286528-70286862	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr16:70286559-70286801	K562	blood:	n/a	n/a
38	POLR2A	chr16:70284703-70288988	HL-60	blood:	n/a	n/a
39	POLR2A	chr16:70284861-70289098	K562	blood:	n/a	n/a
40	CTCF	chr16:70286358-70286883	K562	blood:	n/a	n/a
41	CTCF	chr16:70286549-70286832	SK-N-SH_RA	brain:	n/a	n/a
42	POLR2A	chr16:70284659-70289218	K562	blood:	n/a	n/a
43	RCOR1	chr16:70286633-70286830	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:70284876-70289138	K562	blood:	n/a	n/a
45	POLR2A	chr16:70286554-70287001	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr16:70285669-70286864	K562	blood:	n/a	n/a
47	CTCF	chr16:70286560-70286827	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr16:70284764-70290858	K562	blood:	n/a	n/a
49	CTCF	chr16:70286513-70286819	HepG2	liver:	n/a	n/a
50	SP1	chr16:70286223-70286854	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70286779-70286829	IMR90	lung:	fetal
2	chr16:70286779-70286829	HIPEpiC	eye:	n/a
3	chr16:70286779-70286829	HL-60	blood:	n/a
4	chr16:70286779-70286829	CMK	blood:	n/a
5	chr16:70286779-70286829	AoSMC	blood vessel:	n/a
6	chr16:70286779-70286829	HepG2	liver:	n/a
7	chr16:70286779-70286829	LNCaP	prostate:	n/a
8	chr16:70286779-70286829	BJ	skin:	n/a
9	chr16:70286779-70286829	HNPCEpiC	eye:	n/a
10	chr16:70286779-70286829	HEK293	kidney:	embryo
11	chr16:70286779-70286829	GM12892	blood:	n/a
12	chr16:70286779-70286829	HPAEpiC	pulmonary alveolar:	n/a
13	chr16:70286779-70286829	SK-N-SH	brain:	n/a
14	chr16:70286779-70286829	GM12878	blood:	n/a
15	chr16:70286779-70286829	SKMC	muscle:	n/a
16	chr16:70286779-70286829	BE2_C	brain:	n/a
17	chr16:70286779-70286829	PrEC	prostate:	n/a
18	chr16:70286779-70286829	Hepatocyte	liver:	n/a
19	chr16:70286779-70286829	ProgFib	skin:	n/a
20	chr16:70286779-70286829	Hela-S3	cervix:	n/a
21	chr16:70286779-70286829	HEEpiC	esophagus:	n/a
22	chr16:70286779-70286829	NT2-D1	testis:	n/a
23	chr16:70286779-70286829	Jurkat	blood:	n/a
24	chr16:70286779-70286829	HCPEpiC	choroid plexus:	n/a
25	chr16:70286779-70286829	K562	blood:	n/a
26	chr16:70286779-70286829	SK-N-MC	brain:	n/a
27	chr16:70286779-70286829	NB4	blood:	n/a
28	chr16:70286779-70286829	HAEpiC	amniotic membrane:	n/a
29	chr16:70286779-70286829	RPTEC	kidney:	n/a
30	chr16:70286779-70286829	NH-A	brain:	n/a
31	chr16:70286779-70286829	T-47D	breast:	n/a
32	chr16:70286779-70286829	AG04450	lung:	fetal
33	chr16:70286779-70286829	H1-hESC	embryonic stem cell:	embryo
34	chr16:70286779-70286829	ECC-1	luminal epithelium:	n/a
35	chr16:70286779-70286829	HMEC	breast:	n/a
36	chr16:70286779-70286829	PANC-1	pancreas:	n/a
37	chr16:70286779-70286829	Caco-2	colon:	n/a
38	chr16:70286779-70286829	HRCEpiC	kidney:	n/a
39	chr16:70286779-70286829	HCF	heart:	n/a
40	chr16:70286779-70286829	AG09309	skin:	n/a
41	chr16:70286779-70286829	NHDF-neo	bronchial:	n/a
42	chr16:70286779-70286829	AG04449	skin:	fetal
43	chr16:70286779-70286829	HRE	kidney:	n/a
44	chr16:70286779-70286829	HUVEC	blood vessel:	n/a
45	chr16:70286779-70286829	GM06990	blood:	n/a
46	chr16:70286779-70286829	HCT-116	colon:	n/a
47	chr16:70286779-70286829	NHBE	bronchial:	n/a
48	chr16:70286779-70286829	SAEC	small airway:	n/a
49	chr16:70286779-70286829	MCF10A-Er-Src	breast:	n/a
50	chr16:70286779-70286829	AG10803	skin:	n/a

(count:10 , 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	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:
5	chr16:70285367..70286970-chr17:73718097..73720794,2	MCF-7	breast:
6	chr16:70286360..70288555-chr16:70308791..70311038,2	K562	blood:
7	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
8	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
9	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:
10	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
3	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:70286000-70287200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:70286000-70287200	Strong transcription	Right Atrium	heart
6	chr16:70286000-70287400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:70286000-70288000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:70286000-70288000	Strong transcription	HUVEC	blood vessel
9	chr16:70286000-70288800	Strong transcription	Fetal Lung	lung
10	chr16:70286000-70291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:70286000-70291400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
14	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
15	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
16	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
18	chr16:70286000-70316400	Strong transcription	Liver	Liver
19	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
20	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:70286000-70320400	Strong transcription	Osteobl	bone
27	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:70286200-70287000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:70286200-70287000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:70286200-70287400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:70286200-70287400	Strong transcription	Esophagus	oesophagus
33	chr16:70286200-70287800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:70286200-70287800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:70286200-70288200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:70286200-70288400	Strong transcription	NH-A	brain
37	chr16:70286200-70288800	Strong transcription	Fetal Intestine Small	intestine
38	chr16:70286200-70291200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:70286200-70292800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr16:70286200-70294800	Strong transcription	Colon Smooth Muscle	Colon
41	chr16:70286200-70295000	Strong transcription	HMEC	breast
42	chr16:70286200-70296600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:70286200-70299800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:70286200-70300000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr16:70286200-70300000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr16:70286200-70300000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:70286200-70300000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:70286200-70300000	Strong transcription	Brain Substantia Nigra	brain
49	chr16:70286200-70300000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr16:70286200-70300000	Strong transcription	Rectal Mucosa Donor 29	rectum

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