Variant report

Variant	rs16892543
Chromosome Location	chr8:89340162-89340163
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
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	chr8:89339728-89340217	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:89338777-89340441	H1-neurons	neurons:	n/a	n/a
3	TBP	chr8:89339326-89340419	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr8:89339727-89340257	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr8:89339425-89340352	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:89338858-89340366	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:89339520-89340273	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr8:89339438-89340342	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr8:89339752-89340273	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr8:89339599-89340369	MCF-7	breast:	n/a	n/a
11	FOXP2	chr8:89339524-89340233	PFSK-1	brain:	n/a	n/a
12	TAF1	chr8:89339716-89340227	PFSK-1	brain:	n/a	n/a
13	RAD21	chr8:89339459-89340177	SK-N-SH_RA	brain:	n/a	n/a
14	REST	chr8:89338304-89341720	H1-neurons	neurons:	n/a	chr8:89338460-89338480 chr8:89340911-89340924 chr8:89339589-89339602 chr8:89339193-89339201 chr8:89339268-89339281
15	GTF2F1	chr8:89339873-89340454	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:89339857-89340236	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:89339401-89341221	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr8:89339776-89340629	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr8:89339970-89340526	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:89339813-89340185	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr8:89339135-89341121	IMR90	lung:	n/a	n/a
22	POLR2A	chr8:89339308-89341250	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr8:89339371-89340323	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr8:89339596-89340350	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:89339363-89340279	HUVEC	blood vessel:	n/a	n/a
26	SIN3AK20	chr8:89339624-89340265	SK-N-SH	brain:	n/a	n/a
27	TAF1	chr8:89339750-89340280	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr8:89338387-89341782	IMR90	lung:	n/a	chr8:89341085-89341095 chr8:89340475-89340485 chr8:89341517-89341533
29	POLR2A	chr8:89339629-89340242	PANC-1	pancreas:	n/a	n/a
30	TEAD4	chr8:89339659-89341298	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr8:89339631-89340216	H1-neurons	neurons:	n/a	n/a
32	SMC3	chr8:89338346-89341621	SK-N-SH	brain:	n/a	n/a
33	FOXP2	chr8:89339853-89340241	SK-N-MC	brain:	n/a	n/a
34	TCF7L2	chr8:89339615-89340220	PANC-1	pancreas:	n/a	n/a
35	CHD1	chr8:89340123-89340278	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr8:89338797-89340440	H1-neurons	neurons:	n/a	n/a
37	BACH1	chr8:89339912-89340356	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr8:89339015-89340311	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr8:89338299-89341547	SK-N-SH	brain:	n/a	chr8:89339547-89339555
40	RAD21	chr8:89339758-89341409	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr8:89338726-89341653	MCF-7	breast:	n/a	n/a
42	MAX	chr8:89339492-89340380	SK-N-SH	brain:	n/a	n/a
43	TAF1	chr8:89338946-89340346	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr8:89339537-89341029	ProgFib	skin:	n/a	n/a
45	MAX	chr8:89339492-89340397	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:89339583-89340422	U87	brain:	n/a	n/a
47	POLR2A	chr8:89339484-89340285	HUVEC	blood vessel:	n/a	n/a
48	GATA3	chr8:89339780-89340194	T-47D	breast:	n/a	chr8:89339921-89339934
49	POLR2A	chr8:89339611-89340422	U87	brain:	n/a	n/a
50	YY1	chr8:89339741-89340325	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:89340139-89340189	GM12892	blood:	n/a
2	chr8:89340139-89340189	ECC-1	luminal epithelium:	n/a
3	chr8:89340139-89340189	HAEpiC	amniotic membrane:	n/a
4	chr8:89340139-89340189	SK-N-SH_RA	brain:	n/a
5	chr8:89340139-89340189	Caco-2	colon:	n/a
6	chr8:89340139-89340189	MCF10A-Er-Src	breast:	n/a
7	chr8:89340139-89340189	RPTEC	kidney:	n/a
8	chr8:89340139-89340189	AG09319	gingival:	n/a
9	chr8:89340139-89340189	AoSMC	blood vessel:	n/a
10	chr8:89340139-89340189	SK-N-SH	brain:	n/a
11	chr8:89340139-89340189	SKMC	muscle:	n/a
12	chr8:89340139-89340189	IMR90	lung:	fetal
13	chr8:89340139-89340189	AG04449	skin:	fetal
14	chr8:89340139-89340189	GM06990	blood:	n/a
15	chr8:89340139-89340189	H1-hESC	embryonic stem cell:	embryo
16	chr8:89340139-89340189	AG09309	skin:	n/a
17	chr8:89340139-89340189	HepG2	liver:	n/a
18	chr8:89340139-89340189	GM19239	blood:	n/a
19	chr8:89340139-89340189	CMK	blood:	n/a
20	chr8:89340139-89340189	LNCaP	prostate:	n/a
21	chr8:89340139-89340189	Hela-S3	cervix:	n/a
22	chr8:89340139-89340189	U87	brain:	n/a
23	chr8:89340139-89340189	K562	blood:	n/a
24	chr8:89340139-89340189	NB4	blood:	n/a
25	chr8:89340139-89340189	SK-N-MC	brain:	n/a
26	chr8:89340139-89340189	T-47D	breast:	n/a
27	chr8:89340139-89340189	GM12878	blood:	n/a
28	chr8:89340139-89340189	HCF	heart:	n/a
29	chr8:89340139-89340189	NT2-D1	testis:	n/a
30	chr8:89340139-89340189	AG04450	lung:	fetal
31	chr8:89340139-89340189	HIPEpiC	eye:	n/a
32	chr8:89340139-89340189	BE2_C	brain:	n/a
33	chr8:89340139-89340189	ProgFib	skin:	n/a
34	chr8:89340139-89340189	AG10803	skin:	n/a
35	chr8:89340139-89340189	HMEC	breast:	n/a
36	chr8:89340139-89340189	HCPEpiC	choroid plexus:	n/a
37	chr8:89340139-89340189	HRCEpiC	kidney:	n/a
38	chr8:89340139-89340189	Jurkat	blood:	n/a
39	chr8:89340139-89340189	HEK293	kidney:	embryo
40	chr8:89340139-89340189	HL-60	blood:	n/a
41	chr8:89340139-89340189	MCF-7	breast:	n/a
42	chr8:89340139-89340189	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:89340139-89340189	BJ	skin:	n/a
44	chr8:89340139-89340189	HUVEC	blood vessel:	n/a
45	chr8:89340139-89340189	HEEpiC	esophagus:	n/a
46	chr8:89340139-89340189	PFSK-1	brain:	n/a
47	chr8:89340139-89340189	HRE	kidney:	n/a
48	chr8:89340139-89340189	HCT-116	colon:	n/a
49	chr8:89340139-89340189	HRPEpiC	eye:	n/a
50	chr8:89340139-89340189	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56509168..56511032-chr8:89338903..89341041,2	MCF-7	breast:

No data

Variant related genes	Relation type
MMP16	TF binding region
MMP16	CpG island
ENSG00000229117	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10100170	0.89[EUR][1000 genomes]
rs1012116	0.84[EUR][1000 genomes]
rs10504845	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256784	0.83[EUR][1000 genomes]
rs13261175	0.89[EUR][1000 genomes]
rs13262875	0.90[EUR][1000 genomes]
rs1394511	0.88[EUR][1000 genomes]
rs1504801	0.90[EUR][1000 genomes]
rs16881203	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910730	0.90[EUR][1000 genomes]
rs28787399	0.95[EUR][1000 genomes]
rs34051963	0.90[EUR][1000 genomes]
rs35175011	0.97[EUR][1000 genomes]
rs4246109	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246111	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4369037	0.84[EUR][1000 genomes]
rs4395935	0.97[EUR][1000 genomes]
rs4395936	0.80[ASN][1000 genomes]
rs4515601	0.80[ASN][1000 genomes]
rs4548227	0.80[ASN][1000 genomes]
rs4961086	0.80[ASN][1000 genomes]
rs4961087	0.80[ASN][1000 genomes]
rs4961090	0.80[ASN][1000 genomes]
rs56231945	0.90[EUR][1000 genomes]
rs58255283	0.90[EUR][1000 genomes]
rs58418586	0.90[EUR][1000 genomes]
rs58644813	0.89[EUR][1000 genomes]
rs6469364	0.87[EUR][1000 genomes]
rs67312178	0.90[EUR][1000 genomes]
rs6984041	0.90[EUR][1000 genomes]
rs6989402	0.90[EUR][1000 genomes]
rs6994283	0.90[EUR][1000 genomes]
rs7002751	0.90[EUR][1000 genomes]
rs7003388	0.90[EUR][1000 genomes]
rs7009149	0.80[ASN][1000 genomes]
rs7823223	0.89[EUR][1000 genomes]
rs7825672	0.97[EUR][1000 genomes]
rs7835845	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3426316	chr8:89338836-89341134	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89333200-89341600	Active TSS	Fetal Brain Female	brain
2	chr8:89334600-89341600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:89335000-89341400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:89335000-89341400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:89335200-89341200	Active TSS	Brain Germinal Matrix	brain
6	chr8:89335800-89341200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:89336000-89340200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:89336000-89340800	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:89336000-89341000	Active TSS	Aorta	Aorta
10	chr8:89336000-89341000	Active TSS	Fetal Stomach	stomach
11	chr8:89336000-89341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:89336000-89341400	Active TSS	Brain Angular Gyrus	brain
13	chr8:89336200-89341400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:89336200-89341400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr8:89336200-89341400	Active TSS	Brain Anterior Caudate	brain
16	chr8:89336400-89340800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:89336400-89341000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:89336400-89341200	Active TSS	Brain Cingulate Gyrus	brain
19	chr8:89336600-89340400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:89336800-89341200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:89337000-89341200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:89337000-89341400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:89337200-89341200	Active TSS	Fetal Kidney	kidney
24	chr8:89337200-89341400	Active TSS	NHDF-Ad	bronchial
25	chr8:89337200-89341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:89337400-89341000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:89337400-89341600	Active TSS	NH-A	brain
28	chr8:89337600-89341200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:89337600-89341200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:89337600-89341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:89337600-89341200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr8:89337600-89341400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:89337800-89340800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:89337800-89341200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:89337800-89341200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:89337800-89341400	Active TSS	Fetal Brain Male	brain
37	chr8:89338000-89341400	Active TSS	NHLF	lung
38	chr8:89338200-89340600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:89338200-89340800	Active TSS	Right Atrium	heart
40	chr8:89338200-89341200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:89338400-89340200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:89338400-89340200	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:89338400-89340600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:89338400-89341200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:89338400-89341200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr8:89338400-89341200	Active TSS	Colon Smooth Muscle	Colon
47	chr8:89338400-89341200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:89338400-89341200	Active TSS	Right Ventricle	heart
49	chr8:89338400-89341400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:89338400-89341400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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