Variant report

Variant	rs140318419
Chromosome Location	chr16:81478669-81478670
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	JUN	chr16:81478101-81482533	K562	blood:	n/a	n/a
2	MAZ	chr16:81478047-81479388	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:81477747-81478685	HCT-116	colon:	n/a	n/a
4	CCNT2	chr16:81477875-81478765	K562	blood:	n/a	n/a
5	MXI1	chr16:81478217-81478713	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:81478088-81478771	HUVEC	blood vessel:	n/a	n/a
7	ZBTB7A	chr16:81477499-81479563	K562	blood:	n/a	n/a
8	POLR2A	chr16:81478082-81479478	GM19099	blood:	n/a	n/a
9	NR3C1	chr16:81477626-81478811	A549	lung:	n/a	chr16:81477958-81477971 chr16:81477805-81477818
10	POLR2A	chr16:81478199-81478755	GM12892	blood:	n/a	n/a
11	POLR2A	chr16:81477691-81480666	K562	blood:	n/a	n/a
12	POLR2A	chr16:81478510-81478735	A549	lung:	n/a	n/a
13	HA-E2F1	chr16:81478021-81478786	Hela-S3	cervix:	n/a	chr16:81478316-81478325 chr16:81478222-81478231 chr16:81478304-81478315
14	TAF1	chr16:81478152-81479245	HepG2	liver:	n/a	n/a
15	JUND	chr16:81477868-81478863	A549	lung:	n/a	n/a
16	POLR2A	chr16:81477830-81478817	HUVEC	blood vessel:	n/a	n/a
17	FOXP2	chr16:81478138-81478708	PFSK-1	brain:	n/a	n/a
18	MYC	chr16:81478260-81478684	NB4	blood:	n/a	n/a
19	MYC	chr16:81477872-81478680	K562	blood:	n/a	n/a
20	POLR2A	chr16:81478206-81478691	MCF-7	breast:	n/a	n/a
21	YY1	chr16:81478041-81479386	HepG2	liver:	n/a	chr16:81478868-81478877 chr16:81478869-81478880 chr16:81478958-81478969 chr16:81478871-81478885 chr16:81478289-81478300 chr16:81478295-81478304 chr16:81478289-81478298 chr16:81478815-81478824 chr16:81479250-81479264 chr16:81478871-81478880 chr16:81478819-81478830 chr16:81478308-81478318 chr16:81478287-81478301 chr16:81478289-81478303 chr16:81478290-81478304
22	MAZ	chr16:81477499-81480759	IMR90	lung:	n/a	chr16:81480230-81480240
23	POLR2A	chr16:81478538-81478709	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:81478533-81478678	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:81478498-81478749	A549	lung:	n/a	n/a
26	POLR2A	chr16:81477195-81480546	IMR90	lung:	n/a	n/a
27	MAX	chr16:81478168-81478685	K562	blood:	n/a	n/a
28	POLR2A	chr16:81478563-81478762	HepG2	liver:	n/a	n/a
29	E2F6	chr16:81477909-81478729	K562	blood:	n/a	chr16:81478316-81478325 chr16:81478222-81478231 chr16:81477961-81477971
30	POLR2A	chr16:81478155-81478703	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:81478193-81478688	GM18951	blood:	n/a	n/a
32	MAZ	chr16:81477715-81480715	K562	blood:	n/a	chr16:81480230-81480240
33	POLR2A	chr16:81478513-81478724	A549	lung:	n/a	n/a
34	POLR2A	chr16:81477772-81478806	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr16:81478546-81478700	HepG2	liver:	n/a	n/a
36	ELF1	chr16:81478022-81478718	K562	blood:	n/a	chr16:81478291-81478303
37	CREB1	chr16:81477472-81479349	HepG2	liver:	n/a	n/a
38	SRF	chr16:81478534-81478675	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:81477869-81479347	K562	blood:	n/a	n/a
40	MAX	chr16:81476981-81479502	A549	lung:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
41	POLR2A	chr16:81478405-81478681	Gliobla	brain:	n/a	n/a
42	POLR2A	chr16:81478549-81478687	ECC-1	luminal epithelium:	n/a	n/a
43	HDAC2	chr16:81478537-81478670	K562	blood:	n/a	n/a
44	EGR1	chr16:81477746-81478705	K562	blood:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
45	BHLHE40	chr16:81478257-81478686	HepG2	liver:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
46	POLR2A	chr16:81477933-81478793	ProgFib	skin:	n/a	n/a
47	FOXA2	chr16:81478156-81478711	A549	lung:	n/a	n/a
48	SIN3AK20	chr16:81478153-81478728	K562	blood:	n/a	n/a
49	MAX	chr16:81477827-81478813	MCF-7	breast:	n/a	n/a
50	ZBTB7A	chr16:81478533-81478808	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
2	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
3	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
4	chr12:10554334..10554872-chr16:81477760..81478703,2	Hela-S3	cervix:
5	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
6	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000261609	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260229	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000153815	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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3357337	chr16:81476876-81479424	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3364489	chr16:81476951-81480349	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3333736	chr16:81477276-81479824	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3435927	chr16:81477351-81480049	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3402692	chr16:81477376-81480074	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv14652	chr16:81478084-81479610	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81477400-81480000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:81477400-81481000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr16:81477600-81479000	Active TSS	Right Atrium	heart
4	chr16:81477600-81479600	Active TSS	HSMM	muscle
5	chr16:81477600-81480000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81477600-81480400	Active TSS	Thymus	Thymus
7	chr16:81477600-81480600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:81477600-81480800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:81477600-81481800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:81477800-81478800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:81477800-81479600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:81477800-81479600	Active TSS	NHLF	lung
13	chr16:81477800-81479800	Active TSS	Aorta	Aorta
14	chr16:81477800-81479800	Active TSS	NH-A	brain
15	chr16:81477800-81480000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81477800-81480000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:81477800-81480000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr16:81477800-81480000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr16:81477800-81480000	Active TSS	Osteobl	bone
20	chr16:81477800-81480200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:81477800-81480400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr16:81477800-81480400	Active TSS	HSMMtube	muscle
23	chr16:81477800-81480600	Active TSS	Small Intestine	intestine
24	chr16:81477800-81480800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:81477800-81480800	Active TSS	Ovary	ovary
26	chr16:81477800-81481000	Active TSS	Fetal Brain Female	brain
27	chr16:81477800-81481200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:81477800-81481600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr16:81478000-81478800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:81478000-81478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:81478000-81478800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:81478000-81478800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr16:81478000-81478800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:81478000-81478800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:81478000-81478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:81478000-81478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:81478000-81478800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:81478000-81478800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:81478000-81478800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr16:81478000-81478800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:81478000-81478800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:81478000-81478800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:81478000-81478800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:81478000-81478800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:81478000-81478800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:81478000-81478800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:81478000-81478800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:81478000-81478800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:81478000-81478800	Weak transcription	Liver	Liver
50	chr16:81478000-81478800	Weak transcription	Brain Angular Gyrus	brain

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