Variant report

Variant	rs553128873
Chromosome Location	chr16:75599826-75599827
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	POLR2A	chr16:75599645-75601218	K562	blood:	n/a	n/a
2	SP1	chr16:75599808-75600579	A549	lung:	n/a	chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600471-75600480 chr16:75600222-75600231 chr16:75600444-75600458 chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600470-75600484 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
3	SIN3AK20	chr16:75599621-75600572	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr16:75599638-75600199	K562	blood:	n/a	n/a
5	MAZ	chr16:75599472-75601353	IMR90	lung:	n/a	n/a
6	EP300	chr16:75599660-75600173	K562	blood:	n/a	n/a
7	POLR2A	chr16:75599744-75600988	GM19193	blood:	n/a	n/a
8	MAZ	chr16:75599691-75600960	K562	blood:	n/a	n/a
9	SIN3AK20	chr16:75599772-75600182	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr16:75599601-75600554	GM12878	blood:	n/a	n/a
11	SP1	chr16:75599811-75600532	A549	lung:	n/a	chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600471-75600480 chr16:75600222-75600231 chr16:75600444-75600458 chr16:75600469-75600481 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600470-75600484 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
12	POLR2A	chr16:75599736-75600740	PBDE	blood:	n/a	n/a
13	SP1	chr16:75599784-75600315	GM12878	blood:	n/a	chr16:75599958-75599968 chr16:75600222-75600231 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
14	EBF1	chr16:75598858-75600216	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
15	CTCF	chr16:75599760-75599910	GM12866	blood:	n/a	n/a
16	EGR1	chr16:75599703-75600412	K562	blood:	n/a	chr16:75600223-75600236 chr16:75600221-75600231
17	ZBTB7A	chr16:75599638-75600729	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr16:75599650-75599834	GM12878	blood:	n/a	n/a
19	SPI1	chr16:75599775-75600063	GM12891	blood:	n/a	n/a
20	PML	chr16:75599769-75601348	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:75599759-75600664	GM15510	blood:	n/a	n/a
22	JUND	chr16:75599683-75600589	K562	blood:	n/a	n/a
23	TAL1	chr16:75599764-75599995	K562	blood:	n/a	n/a
24	PML	chr16:75599824-75600521	K562	blood:	n/a	n/a
25	YY1	chr16:75599775-75600616	GM12878	blood:	n/a	chr16:75600449-75600460 chr16:75600222-75600231 chr16:75600375-75600384
26	SIN3A	chr16:75599751-75601179	GM12878	blood:	n/a	chr16:75600975-75600984 chr16:75600554-75600567 chr16:75600442-75600453
27	POLR2A	chr16:75599735-75601022	HepG2	liver:	n/a	n/a
28	ELF1	chr16:75599667-75601148	MCF-7	breast:	n/a	chr16:75600375-75600384 chr16:75600253-75600262 chr16:75600452-75600464 chr16:75600252-75600263
29	SIN3A	chr16:75599675-75601185	H1-hESC	embryonic stem cell:	n/a	chr16:75600975-75600984 chr16:75600554-75600567 chr16:75600442-75600453
30	HDAC2	chr16:75599810-75600121	K562	blood:	n/a	n/a
31	ETS1	chr16:75599726-75600118	K562	blood:	n/a	n/a
32	POLR2A	chr16:75599674-75600576	Raji	blood:	n/a	n/a
33	ELF1	chr16:75599698-75600636	GM12878	blood:	n/a	chr16:75600375-75600384 chr16:75600253-75600262 chr16:75600452-75600464 chr16:75600252-75600263
34	CHD2	chr16:75599809-75599829	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr16:75599768-75600593	SK-N-SH	brain:	n/a	n/a
36	SP1	chr16:75599730-75600379	K562	blood:	n/a	chr16:75599958-75599968 chr16:75600222-75600231 chr16:75599958-75599968 chr16:75600221-75600230 chr16:75600221-75600230 chr16:75600221-75600231 chr16:75600220-75600232 chr16:75600220-75600232 chr16:75600221-75600231
37	ELF1	chr16:75599699-75600537	K562	blood:	n/a	chr16:75600375-75600384 chr16:75600253-75600262 chr16:75600452-75600464 chr16:75600252-75600263
38	POLR2A	chr16:75599718-75601086	GM12892	blood:	n/a	n/a
39	NFIC	chr16:75599780-75600534	ECC-1	luminal epithelium:	n/a	n/a
40	HCFC1	chr16:75599760-75600573	K562	blood:	n/a	n/a
41	SMARCB1	chr16:75599648-75601116	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr16:75599677-75601074	GM12878	blood:	n/a	n/a
43	RUNX3	chr16:75599628-75600714	GM12878	blood:	n/a	n/a
44	GABPA	chr16:75599816-75600831	K562	blood:	n/a	chr16:75600222-75600231 chr16:75600706-75600720
45	POLR2A	chr16:75598853-75601082	GM12878	blood:	n/a	n/a
46	POLR2A	chr16:75599809-75600653	H1-neurons	neurons:	n/a	n/a
47	SIN3AK20	chr16:75599759-75600511	K562	blood:	n/a	n/a
48	TRIM28	chr16:75599650-75600182	K562	blood:	n/a	n/a
49	BHLHE40	chr16:75599726-75600300	K562	blood:	n/a	n/a
50	ZBTB7A	chr16:75599665-75600261	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:
13	chr1:149858339..149860614-chr16:75599065..75602027,3	MCF-7	breast:

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000065427	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75598800-75600000	Flanking Active TSS	GM12878-XiMat	blood
2	chr16:75599000-75600000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr16:75599000-75600000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr16:75599000-75600000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:75599000-75600000	Flanking Active TSS	Hela-S3	cervix
6	chr16:75599000-75600000	Flanking Active TSS	NHEK	skin
7	chr16:75599000-75600400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:75599000-75600400	Active TSS	Thymus	Thymus
9	chr16:75599000-75600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:75599000-75601000	Active TSS	Brain Anterior Caudate	brain
11	chr16:75599000-75601000	Active TSS	Brain Cingulate Gyrus	brain
12	chr16:75599000-75601400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr16:75599000-75601400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:75599200-75600000	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr16:75599200-75600000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr16:75599200-75600000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:75599200-75600000	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr16:75599200-75600000	Flanking Active TSS	HMEC	breast
19	chr16:75599200-75600000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr16:75599200-75600200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr16:75599200-75600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:75599200-75600800	Active TSS	Colonic Mucosa	Colon
23	chr16:75599200-75600800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr16:75599200-75601000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:75599200-75601400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr16:75599200-75601400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr16:75599200-75601400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr16:75599200-75601600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:75599400-75600000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr16:75599400-75600000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr16:75599400-75600000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:75599400-75600000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr16:75599400-75600200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr16:75599400-75600200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr16:75599400-75601000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:75599400-75601000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr16:75599400-75601400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:75599400-75601400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr16:75599400-75601600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:75599600-75600000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:75599600-75600000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:75599600-75600000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75599600-75600000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr16:75599600-75600000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:75599600-75600000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr16:75599600-75600000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:75599600-75600000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr16:75599600-75600000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:75599600-75600000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:75599600-75600000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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