Variant report

Variant	rs897984
Chromosome Location	chr16:30886643-30886644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:576)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:576 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr16:30886004-30886931	K562	blood:	n/a	n/a
2	TAF1	chr16:30885781-30887195	ECC-1	luminal epithelium:	n/a	n/a
3	MBD4	chr16:30886093-30887734	HepG2	liver:	n/a	n/a
4	MYC	chr16:30886074-30886949	K562	blood:	n/a	n/a
5	GATA2	chr16:30886439-30887060	K562	blood:	n/a	n/a
6	RCOR1	chr16:30886158-30886927	K562	blood:	n/a	n/a
7	EP300	chr16:30886562-30886923	SK-N-SH_RA	brain:	n/a	chr16:30886701-30886708 chr16:30886887-30886903 chr16:30886772-30886781
8	POLR2A	chr16:30886068-30888172	GM12891	blood:	n/a	n/a
9	SP1	chr16:30886219-30887065	A549	lung:	n/a	chr16:30886757-30886770 chr16:30886427-30886436 chr16:30886515-30886528
10	EGR1	chr16:30886518-30886791	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30885955-30888571	HepG2	liver:	n/a	n/a
12	MYBL2	chr16:30885998-30888450	HepG2	liver:	n/a	n/a
13	MAZ	chr16:30886417-30887051	GM12878	blood:	n/a	n/a
14	RAD21	chr16:30886074-30887000	HepG2	liver:	n/a	chr16:30886429-30886439
15	POLR2A	chr16:30886005-30887010	K562	blood:	n/a	n/a
16	ZNF263	chr16:30886170-30886989	HEK293-T-REx	kidney:	n/a	chr16:30886348-30886357
17	POLR2A	chr16:30885954-30887421	Hela-S3	cervix:	n/a	n/a
18	TAF7	chr16:30886397-30887096	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr16:30886589-30886893	GM12878	blood:	n/a	n/a
20	TAF7	chr16:30886435-30887086	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr16:30886079-30887012	HCT-116	colon:	n/a	n/a
22	TEAD4	chr16:30886427-30886976	A549	lung:	n/a	n/a
23	TEAD4	chr16:30886182-30886908	K562	blood:	n/a	n/a
24	MYC	chr16:30886309-30886872	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr16:30886121-30887024	A549	lung:	n/a	n/a
26	TCF12	chr16:30885981-30887066	ECC-1	luminal epithelium:	n/a	chr16:30886435-30886445 chr16:30886919-30886926 chr16:30886314-30886324
27	CEBPB	chr16:30886280-30886807	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr16:30885921-30887055	ProgFib	skin:	n/a	n/a
29	MAX	chr16:30885647-30887113	MCF-7	breast:	n/a	chr16:30885959-30885969
30	SP1	chr16:30886516-30886976	H1-hESC	embryonic stem cell:	n/a	chr16:30886757-30886770
31	ELF1	chr16:30886042-30887012	MCF-7	breast:	n/a	chr16:30886699-30886708 chr16:30886696-30886709 chr16:30886772-30886781
32	ZC3H11A	chr16:30886232-30886906	K562	blood:	n/a	n/a
33	PML	chr16:30886295-30887102	K562	blood:	n/a	n/a
34	NRF1	chr16:30886555-30886901	H1-hESC	embryonic stem cell:	n/a	chr16:30886684-30886695
35	POLR2A	chr16:30886416-30886952	A549	lung:	n/a	n/a
36	TAF1	chr16:30886015-30887033	HepG2	liver:	n/a	n/a
37	YY1	chr16:30886575-30886827	HCT-116	colon:	n/a	chr16:30886767-30886781
38	CHD1	chr16:30886598-30887554	H1-hESC	embryonic stem cell:	n/a	n/a
39	TRIM28	chr16:30885992-30886977	K562	blood:	n/a	n/a
40	JUND	chr16:30886593-30886924	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:30885702-30887604	MCF-7	breast:	n/a	n/a
42	REST	chr16:30886461-30886867	PANC-1	pancreas:	n/a	n/a
43	GABPA	chr16:30886021-30887026	K562	blood:	n/a	n/a
44	TCF7L2	chr16:30886545-30886942	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr16:30886083-30888009	GM18526	blood:	n/a	n/a
46	YY1	chr16:30886146-30887755	HepG2	liver:	n/a	chr16:30886767-30886781 chr16:30887391-30887401
47	POLR2A	chr16:30885796-30887430	Hela-S3	cervix:	n/a	n/a
48	JUND	chr16:30886205-30886999	MCF-7	breast:	n/a	chr16:30886424-30886433
49	YY1	chr16:30885970-30887078	GM12892	blood:	n/a	chr16:30886767-30886781
50	POU2F2	chr16:30886289-30887038	GM12891	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:121356413..121357136-chr16:30886462..30887293,2	HCT-116	colon:
2	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
3	chr16:30075742..30076318-chr16:30886448..30886994,2	Hela-S3	cervix:
4	chr16:30886477..30887051-chr19:10514012..10514574,2	Hela-S3	cervix:
5	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
6	chr1:41157418..41157933-chr16:30886318..30887280,2	HCT-116	colon:
7	chr16:30850603..30853489-chr16:30885459..30887910,2	MCF-7	breast:
8	chr12:49582394..49583182-chr16:30886240..30886802,2	HCT-116	colon:
9	chr12:52585727..52586259-chr16:30886623..30887383,2	Hela-S3	cervix:
10	chr16:30757885..30759765-chr16:30885602..30888334,3	MCF-7	breast:
11	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
12	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
13	chr16:30885123..30887354-chr16:30932881..30934600,2	K562	blood:
14	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
15	chr16:30797882..30798815-chr16:30886401..30887178,2	MCF-7	breast:
16	chr12:46764846..46765685-chr16:30886301..30887230,2	Hela-S3	cervix:
17	chr16:30885246..30888347-chr16:30937148..30940794,5	MCF-7	breast:
18	chr16:30797430..30800037-chr16:30885102..30887908,3	K562	blood:
19	chr16:30796927..30799573-chr16:30884313..30888213,5	MCF-7	breast:
20	chr1:70671207..70671772-chr16:30886017..30886837,2	HCT-116	colon:
21	chr16:30885095..30888093-chr16:30931834..30934580,5	MCF-7	breast:
22	chr16:30772557..30775902-chr16:30885131..30888267,4	MCF-7	breast:
23	chr16:30886288..30887012-chr16:31470235..31471093,2	HCT-116	colon:
24	chr16:30886003..30888293-chr2:99224487..99226412,2	MCF-7	breast:
25	chr16:30885110..30887739-chr16:30951914..30954479,2	MCF-7	breast:
26	chr16:30885239..30889762-chr16:30932057..30936596,5	K562	blood:
27	chr16:30884464..30890146-chr16:30902796..30909297,24	K562	blood:
28	chr16:30885130..30887903-chr16:30968069..30970202,3	MCF-7	breast:
29	chr16:30886263..30888030-chr16:31191339..31192931,2	K562	blood:
30	chr16:30886009..30887259-chr3:129034532..129035452,3	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTF1-1	chr16:30886543-30887439	ENSG00000260083.1

No data

Variant related genes	Relation type
MIR4519	TF binding region
ENSG00000167767	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000184897	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000221566	Chromatin interaction
ENSG00000151923	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000272145	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000066136	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000105401	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000099381	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11150599	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11647697	0.89[ASN][1000 genomes]
rs11862962	0.92[ASN][1000 genomes]
rs12920259	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926295	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928081	0.95[ASN][1000 genomes]
rs12929065	0.89[ASN][1000 genomes]
rs12930944	0.89[ASN][1000 genomes]
rs2125293	0.89[ASN][1000 genomes]
rs2168834	0.89[ASN][1000 genomes]
rs2335013	0.89[ASN][1000 genomes]
rs2878304	0.97[ASN][1000 genomes]
rs4290486	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889534	0.89[ASN][1000 genomes]
rs4889536	0.89[ASN][1000 genomes]
rs4889614	0.87[ASN][1000 genomes]
rs4889622	0.89[ASN][1000 genomes]
rs4889627	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889630	0.89[ASN][1000 genomes]
rs4889634	0.86[ASN][1000 genomes]
rs4889651	0.89[ASN][1000 genomes]
rs4889653	0.92[ASN][1000 genomes]
rs55719146	0.92[ASN][1000 genomes]
rs56083427	0.97[ASN][1000 genomes]
rs67264578	0.95[ASN][1000 genomes]
rs67456613	0.97[ASN][1000 genomes]
rs72799330	0.92[ASN][1000 genomes]
rs8050107	0.92[ASN][1000 genomes]
rs8063565	0.97[ASN][1000 genomes]
rs9933843	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
6	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
7	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
11	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
12	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
13	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs897984	HSD3B7	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30885400-30887200	Active TSS	Colonic Mucosa	Colon
2	chr16:30885400-30887200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr16:30885600-30887000	Active TSS	Osteobl	bone
4	chr16:30885600-30887200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:30885600-30887200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:30885600-30887200	Active TSS	Brain Anterior Caudate	brain
7	chr16:30885600-30887200	Active TSS	Rectal Smooth Muscle	rectum
8	chr16:30885600-30887200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr16:30885600-30887200	Active TSS	NHLF	lung
10	chr16:30885600-30887400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:30885600-30887400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:30885600-30887400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:30885600-30887400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:30885600-30887400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr16:30885600-30887400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:30885600-30887400	Active TSS	Esophagus	oesophagus
17	chr16:30885600-30887400	Active TSS	Fetal Brain Female	brain
18	chr16:30885600-30887400	Active TSS	Psoas Muscle	Psoas
19	chr16:30885600-30887400	Active TSS	A549	lung
20	chr16:30885600-30887400	Active TSS	GM12878-XiMat	blood
21	chr16:30885600-30887400	Active TSS	HSMM	muscle
22	chr16:30885600-30888200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:30885600-30888400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:30885600-30888400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:30885600-30888400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr16:30885800-30887200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:30885800-30887200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:30885800-30887200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:30885800-30887200	Active TSS	Fetal Kidney	kidney
30	chr16:30885800-30887200	Active TSS	Stomach Smooth Muscle	stomach
31	chr16:30885800-30887200	Active TSS	NHDF-Ad	bronchial
32	chr16:30885800-30887400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:30885800-30887400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr16:30885800-30887400	Active TSS	Colon Smooth Muscle	Colon
35	chr16:30885800-30887400	Active TSS	Fetal Intestine Large	intestine
36	chr16:30885800-30887400	Active TSS	Fetal Intestine Small	intestine
37	chr16:30885800-30887400	Active TSS	Left Ventricle	heart
38	chr16:30885800-30887400	Active TSS	Lung	lung
39	chr16:30885800-30887400	Active TSS	Right Atrium	heart
40	chr16:30885800-30887400	Active TSS	Stomach Mucosa	stomach
41	chr16:30885800-30887400	Active TSS	HSMMtube	muscle
42	chr16:30885800-30887600	Active TSS	Ovary	ovary
43	chr16:30885800-30887600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr16:30885800-30888000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr16:30885800-30888400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr16:30886000-30887000	Active TSS	Primary T cells from cord blood	blood
47	chr16:30886000-30887000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:30886000-30887000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr16:30886000-30887000	Active TSS	NH-A	brain
50	chr16:30886000-30887200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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