Variant report

Variant	rs11862680
Chromosome Location	chr16:30661655-30661656
allele	A/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	POLR2A	chr16:30660999-30663245	GM12892	blood:	n/a	n/a
2	TBL1XR1	chr16:30661601-30662300	GM12878	blood:	n/a	n/a
3	SRF	chr16:30661639-30661957	GM12878	blood:	n/a	n/a
4	YY1	chr16:30661312-30662896	SK-N-SH	brain:	n/a	chr16:30662809-30662823 chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30662780-30662794 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
5	YY1	chr16:30661251-30662452	GM12891	blood:	n/a	chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
6	POLR2A	chr16:30661571-30662843	IMR90	lung:	n/a	n/a
7	POLR2A	chr16:30661171-30663134	GM12891	blood:	n/a	n/a
8	MAX	chr16:30661446-30663440	A549	lung:	n/a	chr16:30662177-30662187
9	FOSL2	chr16:30661518-30662105	A549	lung:	n/a	n/a
10	HEY1	chr16:30661631-30661939	K562	blood:	n/a	n/a
11	CTCF	chr16:30661540-30661690	AG04449	skin:	n/a	n/a
12	CTCF	chr16:30661548-30663360	SK-N-SH	brain:	n/a	chr16:30661947-30661965 chr16:30662704-30662717 chr16:30662701-30662714 chr16:30662777-30662795 chr16:30662780-30662793
13	NFIC	chr16:30661538-30662511	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:30661560-30661689	MCF-7	breast:	n/a	n/a
15	MYBL2	chr16:30661510-30663392	HepG2	liver:	n/a	n/a
16	EP300	chr16:30661585-30662424	GM12878	blood:	n/a	chr16:30662081-30662097
17	ELF1	chr16:30661433-30662511	MCF-7	breast:	n/a	n/a
18	YY1	chr16:30661591-30662104	GM12878	blood:	n/a	chr16:30661931-30661953 chr16:30661890-30661912 chr16:30661902-30661912 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
19	ELF1	chr16:30661497-30662919	K562	blood:	n/a	n/a
20	RELA	chr16:30661602-30662202	GM19099	blood:	n/a	n/a
21	YY1	chr16:30661271-30663427	HepG2	liver:	n/a	chr16:30662809-30662823 chr16:30662887-30662898 chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30662780-30662794 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914 chr16:30662895-30662906
22	ATF2	chr16:30661529-30662984	GM12878	blood:	n/a	n/a
23	SIX5	chr16:30661613-30662257	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF7L2	chr16:30661513-30662136	HEK293	kidney:	n/a	n/a
25	SIX5	chr16:30661617-30662216	GM12878	blood:	n/a	n/a
26	YY1	chr16:30661514-30662296	NT2-D1	testis:	n/a	chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
27	YY1	chr16:30661653-30662156	K562	blood:	n/a	chr16:30661931-30661953 chr16:30661890-30661912 chr16:30661902-30661912 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
28	FOXM1	chr16:30661544-30662540	GM12878	blood:	n/a	n/a
29	CUX1	chr16:30661549-30661936	K562	blood:	n/a	n/a
30	POLR2A	chr16:30661595-30663317	K562	blood:	n/a	n/a
31	YY1	chr16:30661605-30662285	HCT-116	colon:	n/a	chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914
32	POLR2A	chr16:30661403-30662817	PBDE	blood:	n/a	n/a
33	MAX	chr16:30661623-30662379	MCF-7	breast:	n/a	chr16:30662177-30662187
34	SIX5	chr16:30661609-30662206	K562	blood:	n/a	n/a
35	SP1	chr16:30661435-30663095	HCT-116	colon:	n/a	chr16:30662178-30662190 chr16:30662180-30662189 chr16:30662180-30662189 chr16:30662886-30662900 chr16:30661717-30661738 chr16:30662850-30662862 chr16:30662179-30662188 chr16:30662163-30662177 chr16:30662799-30662812 chr16:30662175-30662189
36	CEBPB	chr16:30661647-30662155	K562	blood:	n/a	n/a
37	SRF	chr16:30661555-30662160	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZC3H11A	chr16:30661480-30662287	K562	blood:	n/a	n/a
39	MAX	chr16:30661465-30662370	H1-hESC	embryonic stem cell:	n/a	chr16:30662177-30662187
40	SRF	chr16:30661637-30661903	K562	blood:	n/a	n/a
41	MAZ	chr16:30661610-30662978	K562	blood:	n/a	chr16:30662177-30662187
42	YY1	chr16:30661348-30663299	K562	blood:	n/a	chr16:30662809-30662823 chr16:30662887-30662898 chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30662780-30662794 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914 chr16:30662895-30662906
43	MAZ	chr16:30660922-30663575	IMR90	lung:	n/a	chr16:30662177-30662187
44	GABPA	chr16:30661243-30662717	MCF-7	breast:	n/a	chr16:30662179-30662188
45	POLR2A	chr16:30661527-30663193	U87	brain:	n/a	n/a
46	TCF12	chr16:30661650-30662886	ECC-1	luminal epithelium:	n/a	n/a
47	NFYB	chr16:30661619-30662514	GM12878	blood:	n/a	chr16:30662429-30662439
48	ATF3	chr16:30661604-30662057	H1-hESC	embryonic stem cell:	n/a	n/a
49	ETS1	chr16:30661575-30662384	A549	lung:	n/a	chr16:30662119-30662130 chr16:30661749-30661758 chr16:30661748-30661757 chr16:30662177-30662188
50	YY1	chr16:30661326-30663530	GM12878	blood:	n/a	chr16:30662809-30662823 chr16:30662887-30662898 chr16:30661931-30661953 chr16:30661890-30661912 chr16:30662179-30662188 chr16:30661902-30661912 chr16:30662780-30662794 chr16:30661936-30661955 chr16:30661900-30661912 chr16:30661895-30661914 chr16:30662895-30662906

No.	Distal block	Cell Line	Cell type
1	chr16:30537916..30540494-chr16:30660265..30663617,4	K562	blood:
2	chr16:30440268..30443161-chr16:30661588..30664787,3	MCF-7	breast:
3	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
4	chr16:30620581..30623168-chr16:30660975..30663614,3	K562	blood:
5	chr16:30620150..30623168-chr16:30660975..30663871,4	K562	blood:
6	chr16:30661294..30664208-chr16:30968481..30971665,3	MCF-7	breast:
7	chr16:30660833..30664856-chr16:30708365..30711306,8	MCF-7	breast:
8	chr16:30453693..30458153-chr16:30661096..30664680,9	K562	blood:
9	chr16:30660345..30663986-chr16:30707025..30711349,10	K562	blood:
10	chr16:30568081..30571222-chr16:30660229..30663794,5	K562	blood:
11	chr16:30439974..30442173-chr16:30661613..30664855,4	K562	blood:
12	chr16:30439785..30443289-chr16:30660749..30664079,6	K562	blood:
13	chr16:30655530..30657440-chr16:30659640..30661858,2	MCF-7	breast:
14	chr16:30100471..30103289-chr16:30661530..30663301,2	K562	blood:
15	chr16:30661013..30665220-chr16:30708206..30710953,10	MCF-7	breast:
16	chr16:30453693..30458218-chr16:30659757..30664442,8	K562	blood:
17	chr16:30417618..30420314-chr16:30660999..30663071,2	MCF-7	breast:
18	chr16:30660775..30663969-chr16:30709456..30712373,8	K562	blood:
19	chr16:30417343..30419699-chr16:30661219..30664648,3	MCF-7	breast:
20	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:

Variant related genes	Relation type
PRR14	TF binding region
ENSG00000169951	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000179958	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11859342	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs4889515	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8045936	1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9924071	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30660800-30661800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:30660800-30661800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr16:30661000-30661800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:30661000-30661800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr16:30661000-30661800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr16:30661000-30661800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:30661000-30661800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:30661000-30661800	Flanking Active TSS	Colonic Mucosa	Colon
9	chr16:30661000-30661800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr16:30661000-30661800	Flanking Active TSS	NHEK	skin
11	chr16:30661000-30662800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:30661000-30663000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:30661000-30663000	Active TSS	Thymus	Thymus
14	chr16:30661000-30663200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:30661000-30663200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:30661000-30663200	Active TSS	Brain Angular Gyrus	brain
17	chr16:30661000-30663200	Active TSS	Brain Substantia Nigra	brain
18	chr16:30661000-30663200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr16:30661000-30663200	Active TSS	Fetal Lung	lung
20	chr16:30661000-30663400	Active TSS	Brain Anterior Caudate	brain
21	chr16:30661000-30663400	Active TSS	Fetal Brain Female	brain
22	chr16:30661000-30663400	Active TSS	Fetal Intestine Large	intestine
23	chr16:30661200-30661800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:30661200-30661800	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr16:30661200-30661800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr16:30661200-30661800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr16:30661200-30661800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr16:30661200-30661800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr16:30661200-30661800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr16:30661200-30661800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:30661200-30661800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr16:30661200-30661800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr16:30661200-30661800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:30661200-30661800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr16:30661200-30661800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:30661200-30661800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:30661200-30661800	Flanking Active TSS	Liver	Liver
38	chr16:30661200-30661800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr16:30661200-30661800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr16:30661200-30661800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr16:30661200-30661800	Flanking Active TSS	Fetal Thymus	thymus
42	chr16:30661200-30661800	Flanking Active TSS	Pancreas	Pancrea
43	chr16:30661200-30661800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr16:30661200-30661800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr16:30661200-30661800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr16:30661200-30662000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:30661200-30662000	Flanking Active TSS	Dnd41	blood
48	chr16:30661200-30662000	Flanking Active TSS	GM12878-XiMat	blood
49	chr16:30661200-30663000	Active TSS	Lung	lung
50	chr16:30661200-30663200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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