Variant report

Variant	rs7203711
Chromosome Location	chr16:31009025-31009026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr16:31008671-31009212	ECC-1	luminal epithelium:	n/a	n/a
2	USF2	chr16:31008810-31009227	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr16:31008902-31009213	HepG2	liver:	n/a	n/a
4	NFIC	chr16:31008859-31009780	HepG2	liver:	n/a	n/a
5	TBL1XR1	chr16:31008803-31009079	K562	blood:	n/a	n/a
6	E2F6	chr16:31008645-31009180	H1-hESC	embryonic stem cell:	n/a	n/a
7	RFX5	chr16:31007922-31009248	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:31007570-31010938	HepG2	liver:	n/a	n/a
9	HNF4A	chr16:31007661-31009066	HepG2	liver:	n/a	chr16:31007916-31007931 chr16:31007916-31007931
10	GATA3	chr16:31007562-31009639	A549	lung:	n/a	chr16:31009108-31009118 chr16:31008136-31008145 chr16:31009315-31009326
11	POLR2A	chr16:31008045-31009036	MCF-7	breast:	n/a	n/a
12	E2F6	chr16:31007699-31009491	A549	lung:	n/a	n/a
13	JUND	chr16:31007596-31009275	A549	lung:	n/a	n/a
14	E2F6	chr16:31008672-31009229	H1-hESC	embryonic stem cell:	n/a	n/a
15	HEY1	chr16:31007231-31010930	HepG2	liver:	n/a	n/a
16	HDAC2	chr16:31007509-31009074	HepG2	liver:	n/a	n/a
17	EP300	chr16:31008868-31009075	HepG2	liver:	n/a	n/a
18	MAX	chr16:31008666-31009183	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr16:31007512-31010112	A549	lung:	n/a	n/a
20	SP1	chr16:31007487-31009961	A549	lung:	n/a	chr16:31008388-31008398 chr16:31008658-31008669 chr16:31008388-31008397 chr16:31008142-31008151 chr16:31008140-31008152 chr16:31009838-31009850 chr16:31008384-31008398 chr16:31008640-31008651 chr16:31008142-31008151 chr16:31007981-31007990 chr16:31008141-31008150
21	POLR2A	chr16:31007505-31009091	PANC-1	pancreas:	n/a	n/a
22	ZNF263	chr16:31008353-31010832	HEK293-T-REx	kidney:	n/a	n/a
23	POLR2A	chr16:31008100-31009057	ProgFib	skin:	n/a	n/a
24	POLR2A	chr16:31008036-31009094	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr16:31007689-31009146	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:31007616-31009917	Hela-S3	cervix:	n/a	n/a
27	ETS1	chr16:31008677-31009256	A549	lung:	n/a	n/a
28	CREB1	chr16:31007538-31009954	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:31007733-31009919	Hela-S3	cervix:	n/a	n/a
30	SIN3A	chr16:31008270-31009326	H1-hESC	embryonic stem cell:	n/a	chr16:31008978-31008991 chr16:31008985-31008994
31	SP1	chr16:31008257-31009038	H1-hESC	embryonic stem cell:	n/a	chr16:31008388-31008398 chr16:31008658-31008669 chr16:31008388-31008397 chr16:31008384-31008398 chr16:31008640-31008651
32	POLR2A	chr16:31007673-31009525	HepG2	liver:	n/a	n/a
33	JUND	chr16:31008335-31010130	SK-N-SH	brain:	n/a	chr16:31009614-31009625
34	MYBL2	chr16:31008734-31009797	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:31007590-31009677	HepG2	liver:	n/a	n/a
36	YY1	chr16:31007583-31009120	HepG2	liver:	n/a	chr16:31007982-31007996 chr16:31009027-31009041 chr16:31008008-31008025
37	SMARCC1	chr16:31008222-31010120	Hela-S3	cervix:	n/a	n/a
38	MAX	chr16:31008648-31009194	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr16:31008763-31009101	HepG2	liver:	n/a	n/a
40	RCOR1	chr16:31007618-31009396	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:31008669-31009075	A549	lung:	n/a	n/a
42	MAZ	chr16:31008159-31010622	IMR90	lung:	n/a	n/a
43	POLR2A	chr16:31007725-31009029	K562	blood:	n/a	n/a
44	ZBTB7A	chr16:31008670-31009171	HepG2	liver:	n/a	n/a
45	MAZ	chr16:31007539-31009266	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:31007846-31009038	PANC-1	pancreas:	n/a	n/a
47	MAX	chr16:31007955-31010121	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr16:31007833-31009232	Hela-S3	cervix:	n/a	n/a
49	SP4	chr16:31008587-31009111	H1-hESC	embryonic stem cell:	n/a	chr16:31008658-31008669 chr16:31008640-31008651
50	FOXA1	chr16:31008708-31009322	HepG2	liver:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30959192..30961458-chr16:31007681..31010044,2	K562	blood:
2	chr16:31007019..31009950-chr16:31086954..31088883,2	MCF-7	breast:
3	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
4	chr16:31007064..31010034-chr16:31018671..31022251,4	MCF-7	breast:
5	chr16:31007135..31009873-chr16:31190289..31192804,2	MCF-7	breast:
6	chr16:31008264..31010102-chr16:31053957..31055799,2	MCF-7	breast:
7	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
8	chr16:31007115..31010903-chr16:31041705..31047571,13	MCF-7	breast:
9	chr1:11967967..11968809-chr16:31008382..31009136,2	Hela-S3	cervix:
10	chr16:31008618..31009272-chr2:85765894..85766852,2	Hela-S3	cervix:
11	chr16:31007911..31010328-chr16:31084206..31087011,2	K562	blood:
12	chr16:31005622..31010168-chr16:31042261..31047356,7	K562	blood:
13	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
14	chr16:31007177..31009516-chr16:31100407..31102646,2	K562	blood:
15	chr16:31008630..31010759-chr16:31011117..31013438,2	K562	blood:
16	chr16:31008766..31010883-chr16:31047833..31050675,2	MCF-7	breast:
17	chr16:31008781..31009709-chr19:17953009..17953805,2	Hela-S3	cervix:
18	chr16:31006807..31011358-chr16:31082999..31086095,12	MCF-7	breast:
19	chr16:31004521..31010198-chr16:31190050..31194376,11	K562	blood:
20	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
21	chr16:31008825..31009679-chr5:148865004..148865943,2	Hela-S3	cervix:
22	chr16:31008272..31010092-chr17:57918270..57920367,2	MCF-7	breast:
23	chr16:31008133..31009095-chr16:31153695..31154390,2	K562	blood:
24	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
25	chr16:31007263..31009136-chr16:31190228..31192701,2	MCF-7	breast:
26	chr16:30998679..31000953-chr16:31008665..31011087,2	MCF-7	breast:
27	chr16:31008194..31010118-chr16:31137008..31138912,2	MCF-7	breast:
28	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
29	chr16:31005971..31009224-chr16:31118025..31120468,3	K562	blood:
30	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
31	chr16:31008927..31009697-chr9:115248462..115249064,2	Hela-S3	cervix:
32	chr16:31005622..31009984-chr16:31042414..31045630,5	K562	blood:

No data

Variant related genes	Relation type
STX1B	TF binding region
ENSG00000151006	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000230185	Chromatin interaction
ENSG00000105639	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000260911	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000103510	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12445568	0.93[LWK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs13333418	0.81[YRI][hapmap]
rs1870292	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs2014236	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2077633	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2199036	0.84[AFR][1000 genomes]
rs34212827	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs61185452	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61400892	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184263	0.82[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs73528516	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048593	0.80[YRI][hapmap]
rs8061920	0.81[YRI][hapmap]
rs9932822	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932921	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940894	0.82[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	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
6	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
7	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
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
10	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	253 gene(s)	inside rSNPs	diseases
12	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
13	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
14	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30997600-31013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31007600-31009200	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr16:31007600-31009400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr16:31007600-31010000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:31007800-31009200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:31007800-31009200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr16:31007800-31009200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:31007800-31009200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr16:31007800-31009200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:31007800-31009200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:31007800-31009200	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr16:31007800-31009200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:31007800-31009200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr16:31007800-31009400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:31007800-31009400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:31007800-31009600	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr16:31007800-31009800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:31008000-31009200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr16:31008000-31009200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr16:31008000-31009200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:31008000-31009200	Active TSS	Brain Cingulate Gyrus	brain
22	chr16:31008000-31009200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr16:31008000-31009200	Active TSS	Fetal Brain Female	brain
24	chr16:31008000-31009200	Flanking Active TSS	Pancreas	Pancrea
25	chr16:31008000-31009400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr16:31008200-31009200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:31008200-31009200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr16:31008200-31009200	Active TSS	Brain Anterior Caudate	brain
29	chr16:31008200-31009200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:31008200-31009200	Active TSS	Brain Substantia Nigra	brain
31	chr16:31008200-31009200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr16:31008200-31009800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:31008200-31010200	Flanking Active TSS	HSMM	muscle
34	chr16:31008400-31009200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:31008400-31009200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:31008400-31009200	Enhancers	Gastric	stomach
37	chr16:31008600-31009200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:31008600-31009200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr16:31008600-31009200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:31008600-31009200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:31008600-31009200	Active TSS	Brain Angular Gyrus	brain
42	chr16:31008600-31009200	Enhancers	Fetal Heart	heart
43	chr16:31008800-31009200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:31008800-31009200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:31008800-31009200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:31008800-31009200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:31008800-31009200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr16:31008800-31009200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr16:31008800-31009200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr16:31008800-31009200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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