Variant report

Variant	rs11862650
Chromosome Location	chr16:75599319-75599320
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	MAX	chr16:75598715-75599370	ECC-1	luminal epithelium:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
2	CEBPB	chr16:75598749-75599379	HCT-116	colon:	n/a	n/a
3	CEBPB	chr16:75598877-75599328	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:75598854-75599406	GM12892	blood:	n/a	n/a
5	RCOR1	chr16:75598541-75599462	IMR90	lung:	n/a	n/a
6	SRF	chr16:75598659-75599334	HCT-116	colon:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
7	EBF1	chr16:75598858-75600216	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
8	EBF1	chr16:75598901-75599412	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
9	CEBPB	chr16:75598751-75599373	HCT-116	colon:	n/a	n/a
10	MAX	chr16:75598781-75599354	SK-N-SH	brain:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
11	MAX	chr16:75598832-75599330	MCF-7	breast:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
12	SRF	chr16:75598931-75599348	H1-hESC	embryonic stem cell:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
13	SRF	chr16:75598651-75599401	MCF-7	breast:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
14	POLR2A	chr16:75598873-75599442	GM12878	blood:	n/a	n/a
15	MEF2A	chr16:75598869-75599365	GM12878	blood:	n/a	chr16:75598889-75598897
16	MXI1	chr16:75598585-75599387	SK-N-SH	brain:	n/a	n/a
17	STAT1	chr16:75598946-75599338	GM12878	blood:	n/a	n/a
18	CEBPB	chr16:75598925-75599330	HepG2	liver:	n/a	n/a
19	CEBPB	chr16:75598852-75599323	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:75598859-75599354	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:75598824-75599348	GM12891	blood:	n/a	n/a
22	SRF	chr16:75598700-75599353	HCT-116	colon:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
23	CEBPB	chr16:75598896-75599338	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:75598853-75601082	GM12878	blood:	n/a	n/a
25	TBP	chr16:75598827-75599409	GM12878	blood:	n/a	n/a
26	SRF	chr16:75598696-75599365	MCF-7	breast:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
27	MAX	chr16:75598762-75599321	K562	blood:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
28	USF2	chr16:75598861-75599327	GM12878	blood:	n/a	chr16:75599105-75599116
29	POLR2A	chr16:75598877-75601063	GM18505	blood:	n/a	n/a
30	POLR2A	chr16:75598837-75599462	Raji	blood:	n/a	n/a
31	MAX	chr16:75598809-75599355	ECC-1	luminal epithelium:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
32	POLR2A	chr16:75598893-75599419	GM12878	blood:	n/a	n/a
33	RUNX3	chr16:75598821-75599372	GM12878	blood:	n/a	n/a
34	CEBPB	chr16:75598835-75599351	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr16:75598683-75599367	HCT-116	colon:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
36	ATF2	chr16:75598743-75599371	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:75598814-75599449	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:75598828-75599426	GM12891	blood:	n/a	n/a
39	MXI1	chr16:75598817-75599352	GM12878	blood:	n/a	n/a
40	SRF	chr16:75598916-75599335	GM12878	blood:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
41	SRF	chr16:75598772-75599368	ECC-1	luminal epithelium:	n/a	chr16:75599156-75599169 chr16:75599157-75599174 chr16:75599154-75599172 chr16:75599158-75599172 chr16:75599157-75599171 chr16:75599156-75599169 chr16:75599158-75599167 chr16:75599157-75599168 chr16:75599154-75599171
42	POLR2A	chr16:75598872-75599351	U87	brain:	n/a	n/a
43	EBF1	chr16:75598868-75599380	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
44	POLR2A	chr16:75598883-75599331	GM12878	blood:	n/a	n/a
45	JUN	chr16:75598611-75599438	K562	blood:	n/a	chr16:75599066-75599079
46	MAX	chr16:75598809-75599378	HepG2	liver:	n/a	chr16:75598947-75598957 chr16:75598948-75598958 chr16:75598948-75598957 chr16:75598947-75598958 chr16:75598948-75598957 chr16:75598949-75598956 chr16:75598947-75598958 chr16:75598946-75598959 chr16:75598947-75598958
47	TCF12	chr16:75598745-75599373	SK-N-SH	brain:	n/a	n/a
48	RUNX3	chr16:75598845-75599355	GM12878	blood:	n/a	n/a
49	CEBPB	chr16:75598922-75599325	HepG2	liver:	n/a	n/a
50	USF1	chr16:75598868-75599341	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75550007..75552554-chr16:75597669..75600323,2	MCF-7	breast:
2	chr16:75598745..75600890-chr16:75655383..75657208,2	MCF-7	breast:
3	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:
4	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
5	chr16:75496436..75498553-chr16:75596400..75601675,4	MCF-7	breast:
6	chr16:75598443..75600121-chr16:75680114..75683081,2	MCF-7	breast:
7	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
8	chr16:75593028..75596412-chr16:75596623..75599848,3	MCF-7	breast:
9	chr16:75466841..75469026-chr16:75598696..75600730,2	MCF-7	breast:
10	chr16:75596664..75600013-chr16:75654010..75656769,3	K562	blood:
11	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
12	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
13	chr1:149858339..149860614-chr16:75599065..75602027,3	MCF-7	breast:

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000166848	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv3312533	chr16:75599276-75601824	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3312534	chr16:75599276-75601824	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75591200-75599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:75594200-75599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:75597800-75599600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr16:75597800-75599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr16:75598000-75599600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr16:75598200-75599600	Enhancers	Fetal Heart	heart
7	chr16:75598200-75599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:75598600-75599400	Enhancers	Fetal Intestine Small	intestine
9	chr16:75598600-75599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:75598800-75599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:75598800-75599400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr16:75598800-75599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:75598800-75599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:75598800-75599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:75598800-75599600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:75598800-75599600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr16:75598800-75599600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr16:75598800-75599600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:75598800-75599600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:75598800-75599600	Enhancers	Fetal Thymus	thymus
21	chr16:75598800-75599600	Enhancers	Stomach Mucosa	stomach
22	chr16:75598800-75599600	Flanking Active TSS	HepG2	liver
23	chr16:75598800-75599600	Enhancers	HSMM	muscle
24	chr16:75598800-75599600	Enhancers	HSMMtube	muscle
25	chr16:75598800-75599600	Enhancers	NHDF-Ad	bronchial
26	chr16:75598800-75599600	Enhancers	NHLF	lung
27	chr16:75598800-75600000	Flanking Active TSS	GM12878-XiMat	blood
28	chr16:75599000-75599400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:75599000-75599400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:75599000-75599400	Enhancers	Primary T cells from cord blood	blood
31	chr16:75599000-75599400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:75599000-75599400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr16:75599000-75599400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:75599000-75599400	Enhancers	Adipose Nuclei	Adipose
35	chr16:75599000-75599400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:75599000-75599400	Flanking Active TSS	K562	blood
37	chr16:75599000-75599600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:75599000-75599600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:75599000-75599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr16:75599000-75599600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:75599000-75599600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr16:75599000-75599600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:75599000-75599600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:75599000-75599600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:75599000-75599600	Enhancers	Brain Hippocampus Middle	brain
46	chr16:75599000-75599600	Enhancers	Esophagus	oesophagus
47	chr16:75599000-75599600	Enhancers	Fetal Muscle Leg	muscle
48	chr16:75599000-75599600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr16:75599000-75599600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr16:75599000-75599800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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