Variant report

Variant	rs13336094
Chromosome Location	chr16:70780441-70780442
allele	C/T
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	NFIC	chr16:70780372-70781518	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70779897-70781047	HepG2	liver:	n/a	n/a
3	MYC	chr16:70779954-70781124	K562	blood:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
4	MYC	chr16:70780074-70780870	MCF-7	breast:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
5	NFIC	chr16:70779803-70781151	SK-N-SH	brain:	n/a	n/a
6	JUND	chr16:70779962-70781274	HepG2	liver:	n/a	chr16:70780787-70780798 chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780789-70780796 chr16:70780349-70780358
7	MYC	chr16:70779995-70781206	K562	blood:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
8	FOXA2	chr16:70779746-70781154	A549	lung:	n/a	chr16:70779963-70779975
9	MAX	chr16:70779884-70781330	MCF-7	breast:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
10	MYC	chr16:70779901-70781267	MCF10A-Er-Src	breast:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
11	MXI1	chr16:70779989-70781277	HepG2	liver:	n/a	chr16:70780407-70780416
12	YY1	chr16:70780003-70780964	A549	lung:	n/a	n/a
13	YY1	chr16:70780168-70780526	HCT-116	colon:	n/a	n/a
14	JUND	chr16:70780032-70781307	HepG2	liver:	n/a	chr16:70780787-70780798 chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780789-70780796 chr16:70780349-70780358
15	SIX5	chr16:70780056-70781156	A549	lung:	n/a	n/a
16	POLR2A	chr16:70779816-70781048	U87	brain:	n/a	n/a
17	MYBL2	chr16:70779746-70781481	HepG2	liver:	n/a	n/a
18	MBD4	chr16:70779693-70781374	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:70779928-70781330	HepG2	liver:	n/a	n/a
20	EP300	chr16:70779896-70781267	HepG2	liver:	n/a	chr16:70780789-70780798 chr16:70780788-70780797 chr16:70780011-70780021
21	MAZ	chr16:70779623-70781476	IMR90	lung:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
22	MYC	chr16:70779339-70781016	A549	lung:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
23	POLR2A	chr16:70779863-70781247	U87	brain:	n/a	n/a
24	STAT3	chr16:70779831-70781250	MCF10A-Er-Src	breast:	n/a	chr16:70780773-70780785 chr16:70780110-70780122 chr16:70780788-70780797 chr16:70780789-70780798
25	SP1	chr16:70779630-70781166	A549	lung:	n/a	chr16:70780118-70780132 chr16:70780119-70780128 chr16:70780772-70780786
26	JUND	chr16:70780005-70781040	A549	lung:	n/a	chr16:70780787-70780798 chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780789-70780796 chr16:70780349-70780358
27	TBP	chr16:70780029-70781135	HepG2	liver:	n/a	n/a
28	FOS	chr16:70779962-70781247	MCF10A-Er-Src	breast:	n/a	chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780787-70780798 chr16:70780789-70780796 chr16:70780349-70780358
29	JUND	chr16:70780050-70781109	MCF-7	breast:	n/a	chr16:70780787-70780798 chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780789-70780796 chr16:70780349-70780358
30	MBD4	chr16:70780434-70781363	HepG2	liver:	n/a	n/a
31	RCOR1	chr16:70779984-70781261	HepG2	liver:	n/a	n/a
32	MYC	chr16:70779962-70781286	HepG2	liver:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
33	HDAC2	chr16:70779607-70781372	HepG2	liver:	n/a	n/a
34	MAX	chr16:70779747-70782130	NB4	blood:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70781664-70781673 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70781665-70781672 chr16:70780145-70780154 chr16:70781663-70781673 chr16:70780120-70780130
35	RFX5	chr16:70779969-70781273	HepG2	liver:	n/a	n/a
36	HEY1	chr16:70779949-70781419	HepG2	liver:	n/a	n/a
37	TEAD4	chr16:70779554-70781514	HepG2	liver:	n/a	n/a
38	BRCA1	chr16:70780022-70780866	HepG2	liver:	n/a	n/a
39	NFIC	chr16:70779952-70781152	ECC-1	luminal epithelium:	n/a	n/a
40	MXI1	chr16:70779515-70781281	IMR90	lung:	n/a	chr16:70779797-70779806 chr16:70780407-70780416
41	POLR2A	chr16:70780034-70781009	HepG2	liver:	n/a	n/a
42	USF1	chr16:70779908-70780553	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr16:70779913-70780955	HepG2	liver:	n/a	n/a
44	CEBPD	chr16:70779838-70780911	HepG2	liver:	n/a	n/a
45	MAZ	chr16:70780001-70781192	K562	blood:	n/a	chr16:70780147-70780154 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780144-70780155 chr16:70780406-70780416 chr16:70780145-70780154 chr16:70780120-70780130
46	FOSL1	chr16:70779888-70781192	HCT-116	colon:	n/a	chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780789-70780796 chr16:70780349-70780358
47	BHLHE40	chr16:70779958-70780994	K562	blood:	n/a	n/a
48	POLR2A	chr16:70779954-70781574	NB4	blood:	n/a	n/a
49	FOS	chr16:70779935-70781248	MCF10A-Er-Src	breast:	n/a	chr16:70780350-70780359 chr16:70780787-70780799 chr16:70780788-70780797 chr16:70780789-70780798 chr16:70780789-70780797 chr16:70780787-70780798 chr16:70780789-70780796 chr16:70780349-70780358
50	SP1	chr16:70779814-70781209	A549	lung:	n/a	chr16:70780118-70780132 chr16:70780119-70780128 chr16:70780772-70780786

No.	Distal block	Cell Line	Cell type
1	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
2	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
3	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
4	chr16:70733046..70734873-chr16:70779967..70781686,2	MCF-7	breast:
5	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
6	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
7	chr16:70780127..70782927-chr16:70835296..70837245,2	K562	blood:
8	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
9	chr16:70779313..70782251-chr16:70793446..70796523,4	K562	blood:
10	chr16:70710951..70713595-chr16:70779027..70782774,3	MCF-7	breast:
11	chr16:70556680..70559302-chr16:70779045..70781738,2	MCF-7	breast:
12	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:
13	chr1:116519198..116522073-chr16:70780439..70782175,2	MCF-7	breast:
14	chr16:70713469..70715146-chr16:70778729..70780747,2	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000260156	TF binding region
ENSG00000132613	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000163393	Chromatin interaction
ENSG00000262890	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73577137	0.85[AMR][1000 genomes]

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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:70771200-70782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:70771400-70783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70772400-70783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:70774200-70780600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:70775200-70780800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:70775800-70782600	Weak transcription	Fetal Kidney	kidney
12	chr16:70777400-70780800	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr16:70777400-70784400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr16:70777600-70781200	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr16:70777800-70783800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:70777800-70783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:70777800-70788400	Enhancers	Psoas Muscle	Psoas
18	chr16:70778200-70782600	Genic enhancers	Spleen	Spleen
19	chr16:70778200-70784400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:70778400-70780600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:70778400-70788200	Enhancers	Liver	Liver
22	chr16:70778600-70783600	Enhancers	HSMMtube	muscle
23	chr16:70778600-70784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:70778600-70784000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr16:70778600-70785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:70778800-70781800	Enhancers	Stomach Mucosa	stomach
27	chr16:70778800-70783600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:70778800-70784000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:70778800-70787000	Enhancers	Fetal Thymus	thymus
30	chr16:70778800-70788000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:70779000-70782600	Enhancers	Right Ventricle	heart
32	chr16:70779000-70783400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:70779000-70783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:70779000-70784600	Enhancers	HSMM	muscle
35	chr16:70779000-70785000	Weak transcription	Primary B cells from cord blood	blood
36	chr16:70779000-70786200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:70779000-70786400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:70779000-70786400	Enhancers	NHDF-Ad	bronchial
39	chr16:70779000-70788600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr16:70779200-70781000	Enhancers	Fetal Brain Male	brain
41	chr16:70779200-70781200	Enhancers	Brain Cingulate Gyrus	brain
42	chr16:70779200-70782800	Enhancers	HMEC	breast
43	chr16:70779200-70783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr16:70779200-70783600	Enhancers	Placenta	Placenta
45	chr16:70779200-70784600	Enhancers	Pancreas	Pancrea
46	chr16:70779200-70787400	Enhancers	Lung	lung
47	chr16:70779400-70780600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:70779400-70780800	Enhancers	Brain Angular Gyrus	brain
49	chr16:70779400-70781200	Enhancers	Fetal Muscle Leg	muscle
50	chr16:70779400-70782000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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