Variant report

Variant	rs11865874
Chromosome Location	chr16:75598936-75598937
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	MYC	chr16:75598782-75599288	MCF10A-Er-Src	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
2	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
3	USF2	chr16:75598873-75599258	HepG2	liver:	n/a	chr16:75599105-75599116
4	CEBPB	chr16:75598820-75599317	MCF-7	breast:	n/a	n/a
5	CEBPB	chr16:75598749-75599379	HCT-116	colon:	n/a	n/a
6	JUND	chr16:75598865-75599301	K562	blood:	n/a	n/a
7	USF1	chr16:75598854-75599229	SK-N-SH_RA	brain:	n/a	n/a
8	MAX	chr16:75598821-75599230	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
9	CEBPB	chr16:75598877-75599328	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:75598854-75599406	GM12892	blood:	n/a	n/a
11	RCOR1	chr16:75598541-75599462	IMR90	lung:	n/a	n/a
12	MAX	chr16:75598780-75599310	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
13	MAX	chr16:75598798-75599318	NB4	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
14	BHLHE40	chr16:75598873-75599309	K562	blood:	n/a	n/a
15	POLR2A	chr16:75598882-75599317	GM12892	blood:	n/a	n/a
16	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
17	FOS	chr16:75598857-75599299	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr16:75598858-75600216	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
19	TCF7L2	chr16:75598923-75599252	Hela-S3	cervix:	n/a	n/a
20	EBF1	chr16:75598901-75599412	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
21	MXI1	chr16:75598815-75599275	HepG2	liver:	n/a	n/a
22	CEBPB	chr16:75598751-75599373	HCT-116	colon:	n/a	n/a
23	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
24	RCOR1	chr16:75598933-75599246	K562	blood:	n/a	n/a
25	CEBPB	chr16:75598913-75599316	IMR90	lung:	n/a	n/a
26	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
27	JUN	chr16:75598896-75599244	HepG2	liver:	n/a	chr16:75599066-75599079
28	SRF	chr16:75598935-75599275	K562	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
29	POLR2A	chr16:75598925-75599286	GM12892	blood:	n/a	n/a
30	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
31	USF1	chr16:75598853-75599273	SK-N-SH_RA	brain:	n/a	n/a
32	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
33	USF1	chr16:75598896-75599264	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:75598873-75599442	GM12878	blood:	n/a	n/a
35	MEF2A	chr16:75598869-75599365	GM12878	blood:	n/a	chr16:75598889-75598897
36	MXI1	chr16:75598585-75599387	SK-N-SH	brain:	n/a	n/a
37	EP300	chr16:75598893-75599251	GM12878	blood:	n/a	chr16:75599067-75599075
38	POLR2A	chr16:75598888-75599143	GM12891	blood:	n/a	n/a
39	RCOR1	chr16:75598862-75599208	GM12878	blood:	n/a	n/a
40	JUND	chr16:75598904-75599268	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:75598925-75599330	HepG2	liver:	n/a	n/a
42	CEBPB	chr16:75598852-75599323	MCF-7	breast:	n/a	n/a
43	CUX1	chr16:75598798-75599252	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:75598859-75599354	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:75598824-75599348	GM12891	blood:	n/a	n/a
46	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
47	MYC	chr16:75598869-75599258	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
48	CEBPB	chr16:75598896-75599338	HepG2	liver:	n/a	n/a
49	POLR2A	chr16:75598853-75601082	GM12878	blood:	n/a	n/a
50	USF1	chr16:75598836-75599275	K562	blood:	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:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11862663	1.00[AMR][1000 genomes]
rs16941400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16941865	1.00[AMR][1000 genomes]
rs16975622	1.00[AMR][1000 genomes]
rs1874023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099447	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161699	1.00[AMR][1000 genomes]
rs2865829	1.00[AMR][1000 genomes]
rs3896549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046646	1.00[AMR][1000 genomes]
rs8047561	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75590600-75599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:75591200-75599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75594200-75599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:75594200-75599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:75594400-75599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:75594400-75599000	Weak transcription	Adipose Nuclei	Adipose
7	chr16:75594400-75599000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:75597800-75599000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:75597800-75599000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:75597800-75599200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:75597800-75599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:75597800-75599600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:75597800-75599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:75598000-75599000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr16:75598000-75599000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:75598000-75599200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:75598000-75599600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr16:75598200-75599000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:75598200-75599600	Enhancers	Fetal Heart	heart
20	chr16:75598200-75599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:75598400-75599000	Enhancers	NHEK	skin
22	chr16:75598400-75599200	Enhancers	Primary B cells from peripheral blood	blood
23	chr16:75598600-75599000	Enhancers	Primary B cells from cord blood	blood
24	chr16:75598600-75599000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:75598600-75599000	Enhancers	Hela-S3	cervix
26	chr16:75598600-75599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:75598600-75599200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr16:75598600-75599200	Enhancers	NH-A	brain
29	chr16:75598600-75599400	Enhancers	Fetal Intestine Small	intestine
30	chr16:75598600-75599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:75598800-75599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:75598800-75599000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr16:75598800-75599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:75598800-75599000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:75598800-75599000	Active TSS	Rectal Smooth Muscle	rectum
36	chr16:75598800-75599000	Bivalent Enhancer	Dnd41	blood
37	chr16:75598800-75599000	Enhancers	K562	blood
38	chr16:75598800-75599200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:75598800-75599200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:75598800-75599200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr16:75598800-75599200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:75598800-75599200	Enhancers	Fetal Intestine Large	intestine
43	chr16:75598800-75599200	Enhancers	Placenta	Placenta
44	chr16:75598800-75599200	Enhancers	HMEC	breast
45	chr16:75598800-75599200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr16:75598800-75599200	Enhancers	Osteobl	bone
47	chr16:75598800-75599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:75598800-75599400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr16:75598800-75599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:75598800-75599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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