Variant report

Variant	rs1865493
Chromosome Location	chr16:75681743-75681744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr16:75681184-75681790	A549	lung:	n/a	chr16:75681620-75681634
2	PML	chr16:75681157-75682243	K562	blood:	n/a	n/a
3	RCOR1	chr16:75681434-75682152	K562	blood:	n/a	n/a
4	SIN3AK20	chr16:75681375-75681817	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr16:75681147-75681955	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr16:75681110-75683751	GM18505	blood:	n/a	n/a
7	TAF1	chr16:75681221-75682753	GM12878	blood:	n/a	n/a
8	PBX3	chr16:75681339-75681969	SK-N-SH	brain:	n/a	n/a
9	MAX	chr16:75681002-75683067	HCT-116	colon:	n/a	chr16:75681623-75681633
10	MAX	chr16:75680979-75682749	ECC-1	luminal epithelium:	n/a	chr16:75681623-75681633
11	EGR1	chr16:75681276-75681872	MCF-7	breast:	n/a	chr16:75681619-75681634 chr16:75681620-75681633 chr16:75681300-75681324 chr16:75681621-75681635 chr16:75681620-75681633
12	MAX	chr16:75681044-75682083	SK-N-SH	brain:	n/a	chr16:75681623-75681633
13	POLR2A	chr16:75681187-75682900	MCF-7	breast:	n/a	n/a
14	POLR2A	chr16:75681151-75682023	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr16:75680523-75683108	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr16:75681225-75682068	HepG2	liver:	n/a	chr16:75681657-75681671 chr16:75681660-75681674
17	ZNF143	chr16:75681438-75681963	Hela-S3	cervix:	n/a	n/a
18	MAX	chr16:75681044-75682668	ECC-1	luminal epithelium:	n/a	chr16:75681623-75681633
19	RCOR1	chr16:75681410-75681931	HepG2	liver:	n/a	n/a
20	TAF1	chr16:75681361-75681938	PFSK-1	brain:	n/a	n/a
21	TAF1	chr16:75681198-75681956	H1-hESC	embryonic stem cell:	n/a	n/a
22	CCNT2	chr16:75681236-75682770	K562	blood:	n/a	chr16:75682558-75682567
23	MYC	chr16:75681154-75682607	MCF-7	breast:	n/a	chr16:75681623-75681633
24	POLR2A	chr16:75681156-75682985	GM19193	blood:	n/a	n/a
25	POLR2A	chr16:75681286-75681910	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:75681386-75681973	A549	lung:	n/a	n/a
27	POLR2A	chr16:75681306-75682186	HCT-116	colon:	n/a	n/a
28	NFIC	chr16:75681124-75681875	HepG2	liver:	n/a	n/a
29	YY1	chr16:75681146-75682926	GM12892	blood:	n/a	chr16:75681620-75681634 chr16:75682459-75682473 chr16:75682558-75682567
30	EP300	chr16:75681436-75681744	SK-N-SH_RA	brain:	n/a	n/a
31	TAF1	chr16:75681254-75681941	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr16:75681248-75681967	GM12878	blood:	n/a	n/a
33	IRF1	chr16:75681350-75681817	K562	blood:	n/a	chr16:75681624-75681638
34	KAT2A	chr16:75681457-75681814	GM12878	blood:	n/a	n/a
35	MAX	chr16:75681118-75682698	GM12878	blood:	n/a	chr16:75681623-75681633
36	JUND	chr16:75681638-75681829	HepG2	liver:	n/a	n/a
37	YY1	chr16:75681005-75682939	SK-N-SH	brain:	n/a	chr16:75681620-75681634 chr16:75682459-75682473 chr16:75682558-75682567
38	TAF7	chr16:75681213-75681890	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:75680951-75682962	GM12878	blood:	n/a	n/a
40	REST	chr16:75681633-75681967	A549	lung:	n/a	n/a
41	SIN3AK20	chr16:75681169-75682791	PANC-1	pancreas:	n/a	n/a
42	FOSL2	chr16:75681232-75681756	A549	lung:	n/a	n/a
43	ELK1	chr16:75681343-75681882	GM12878	blood:	n/a	n/a
44	TAF1	chr16:75681212-75682014	PFSK-1	brain:	n/a	n/a
45	CREB1	chr16:75681169-75681890	A549	lung:	n/a	n/a
46	GABPA	chr16:75680903-75682006	A549	lung:	n/a	chr16:75681657-75681671 chr16:75681660-75681674
47	NRF1	chr16:75681132-75681855	Hela-S3	cervix:	n/a	chr16:75681657-75681671 chr16:75681660-75681674 chr16:75681660-75681671
48	MAZ	chr16:75681238-75683550	IMR90	lung:	n/a	chr16:75681623-75681633
49	MYC	chr16:75681463-75681768	MCF-7	breast:	n/a	chr16:75681623-75681633
50	GABPA	chr16:75680988-75681911	A549	lung:	n/a	chr16:75681657-75681671 chr16:75681660-75681674

No.	Distal block	Cell Line	Cell type
1	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
2	chr15:91498011..91498726-chr16:75681162..75681997,2	Hela-S3	cervix:
3	chr11:76155312..76155994-chr16:75681595..75682217,2	NB4	blood:
4	chr16:75589371..75591308-chr16:75680950..75683874,2	K562	blood:
5	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
6	chr16:75681312..75682923-chr7:155600898..155603804,2	MCF-7	breast:
7	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
8	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
9	chr16:75549848..75551982-chr16:75681662..75683251,3	MCF-7	breast:
10	chr16:75548080..75552218-chr16:75679936..75683385,4	K562	blood:
11	chr16:75681313..75682140-chr6:10694440..10695297,2	Hela-S3	cervix:
12	chr16:75680135..75682966-chr16:77223241..77226200,3	MCF-7	breast:
13	chr16:75656309..75658389-chr16:75681209..75683148,3	K562	blood:
14	chr16:75681420..75682057-chr7:142960534..142961062,2	NB4	blood:
15	chr16:75680522..75683233-chr16:77224728..77226496,3	MCF-7	breast:
16	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:
17	chr16:75681327..75681852-chr17:62223184..62223971,2	Hela-S3	cervix:
18	chr16:75634260..75637164-chr16:75680044..75681999,3	K562	blood:
19	chr1:44445018..44445619-chr16:75681352..75682257,2	Hela-S3	cervix:
20	chr1:28968718..28970930-chr16:75681281..75682957,2	MCF-7	breast:
21	chr16:75588411..75591308-chr16:75680950..75683486,5	K562	blood:
22	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:

Variant related genes	Relation type
TERF2IP	TF binding region
KARS	TF binding region
ENSG00000065427	Chromatin interaction
ENSG00000229388	Chromatin interaction
ENSG00000164690	Chromatin interaction
ENSG00000111845	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000255135	Chromatin interaction
ENSG00000137434	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000120656	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000197448	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1030264	0.86[EUR][1000 genomes]
rs11149842	0.91[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs11643215	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12445937	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12446652	0.82[ASN][1000 genomes]
rs12595883	0.87[JPT][hapmap]
rs12596033	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12596724	0.84[ASN][1000 genomes]
rs12596857	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12597472	0.86[EUR][1000 genomes]
rs12598094	0.92[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs12598741	0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs12598751	0.82[JPT][hapmap]
rs12599322	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12600066	0.82[ASN][1000 genomes]
rs12600271	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs16940253	0.80[JPT][hapmap]
rs16940467	0.87[JPT][hapmap]
rs16941533	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17697211	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17764821	0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1836547	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1979717	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2082751	0.86[AMR][1000 genomes]
rs2164245	0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2242406	0.82[JPT][hapmap]
rs2278469	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2289063	0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2903106	0.91[AMR][1000 genomes]
rs3743599	0.93[JPT][hapmap]
rs3743603	0.92[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784929	0.90[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41505349	0.90[CEU][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888436	0.84[ASN][1000 genomes]
rs4888437	0.84[ASN][1000 genomes]
rs4888440	0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4888442	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4888452	0.84[EUR][1000 genomes]
rs5010692	0.90[CEU][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57396453	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58273293	0.87[ASN][1000 genomes]
rs58508930	0.85[ASN][1000 genomes]
rs60393074	0.82[ASN][1000 genomes]
rs60775162	0.86[EUR][1000 genomes]
rs60895247	0.86[EUR][1000 genomes]
rs60952428	0.80[ASN][1000 genomes]
rs61036571	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6564268	0.82[ASN][1000 genomes]
rs7186966	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7187672	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7193066	0.86[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7195338	0.83[ASN][1000 genomes]
rs719574	0.80[ASN][1000 genomes]
rs8048806	0.82[EUR][1000 genomes]
rs8051713	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8055329	0.84[ASN][1000 genomes]
rs8056968	0.82[ASN][1000 genomes]
rs8060972	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs8061505	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8192516	0.81[ASN][1000 genomes]
rs963820	0.86[JPT][hapmap]
rs9934159	0.90[CEU][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers 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	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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 target site	37 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	chr16:75679800-75684600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr16:75680000-75683800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:75680000-75683800	Active TSS	A549	lung
4	chr16:75680000-75684400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:75680000-75684800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr16:75680200-75683800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:75680200-75684000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75680200-75684600	Active TSS	K562	blood
9	chr16:75680200-75684800	Active TSS	HSMM	muscle
10	chr16:75680200-75685400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:75680200-75685400	Active TSS	NHLF	lung
12	chr16:75680400-75683800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:75680400-75684000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:75680400-75684200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:75680400-75684200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:75680400-75684200	Active TSS	NHDF-Ad	bronchial
17	chr16:75680600-75683600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:75680600-75683800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr16:75680600-75683800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:75680600-75683800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:75680600-75683800	Bivalent/Poised TSS	HepG2	liver
22	chr16:75680600-75684200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:75680600-75684200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:75680600-75684800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:75680800-75681800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:75680800-75682000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:75680800-75682200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:75680800-75683000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:75680800-75683000	Active TSS	Fetal Muscle Leg	muscle
30	chr16:75680800-75683400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:75680800-75683400	Active TSS	HMEC	breast
32	chr16:75680800-75683600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:75680800-75683600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:75680800-75683600	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr16:75680800-75683600	Active TSS	Duodenum Mucosa	Duodenum
36	chr16:75680800-75683600	Active TSS	Placenta	Placenta
37	chr16:75680800-75683600	Active TSS	Psoas Muscle	Psoas
38	chr16:75680800-75683600	Active TSS	Stomach Mucosa	stomach
39	chr16:75680800-75683600	Active TSS	NHEK	skin
40	chr16:75680800-75683600	Active TSS	Osteobl	bone
41	chr16:75680800-75683800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr16:75680800-75683800	Active TSS	Small Intestine	intestine
43	chr16:75680800-75683800	Active TSS	Stomach Smooth Muscle	stomach
44	chr16:75680800-75684000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:75680800-75684000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr16:75680800-75684000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr16:75680800-75684000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr16:75680800-75684000	Active TSS	Aorta	Aorta
49	chr16:75680800-75684000	Active TSS	Colon Smooth Muscle	Colon
50	chr16:75680800-75684000	Active TSS	Fetal Thymus	thymus

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