Variant report

Variant	rs565831792
Chromosome Location	chr16:30406241-30406242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr16:30405653-30407431	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:30405722-30406902	SK-N-SH	brain:	n/a	n/a
3	E2F6	chr16:30406197-30406842	A549	lung:	n/a	n/a
4	UBTF	chr16:30405890-30407417	K562	blood:	n/a	n/a
5	MAX	chr16:30406208-30406858	SK-N-SH	brain:	n/a	n/a
6	MAX	chr16:30406157-30407332	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:30404889-30406276	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr16:30406070-30407170	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr16:30405528-30407907	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr16:30406123-30407447	ProgFib	skin:	n/a	n/a
11	NR2F2	chr16:30405545-30406324	K562	blood:	n/a	n/a
12	TAF1	chr16:30405841-30406264	K562	blood:	n/a	n/a
13	POLR2A	chr16:30405917-30406953	K562	blood:	n/a	n/a
14	POLR2A	chr16:30405610-30407554	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:30405682-30407399	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr16:30405106-30408009	H1-neurons	neurons:	n/a	chr16:30406917-30406930 chr16:30406091-30406100
17	GABPA	chr16:30406206-30407356	K562	blood:	n/a	n/a
18	MXI1	chr16:30405086-30408046	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr16:30406095-30406285	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:30405962-30407431	MCF-7	breast:	n/a	n/a
21	POLR2A	chr16:30406021-30407487	PFSK-1	brain:	n/a	n/a
22	TCF12	chr16:30405403-30407473	A549	lung:	n/a	chr16:30406926-30406936
23	TAF1	chr16:30405391-30406855	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr16:30405320-30406966	SK-N-SH	brain:	n/a	n/a
25	MAX	chr16:30405596-30407549	HepG2	liver:	n/a	n/a
26	HEY1	chr16:30405805-30406244	K562	blood:	n/a	n/a
27	MAX	chr16:30406181-30407542	HepG2	liver:	n/a	n/a
28	SIN3A	chr16:30406057-30407682	H1-hESC	embryonic stem cell:	n/a	chr16:30407022-30407033 chr16:30406255-30406268 chr16:30407035-30407046 chr16:30406091-30406104 chr16:30406909-30406920
29	POLR2A	chr16:30405456-30407669	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:30405634-30407128	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr16:30405842-30407316	K562	blood:	n/a	n/a
32	POLR2A	chr16:30405716-30406822	IMR90	lung:	n/a	n/a
33	RAD21	chr16:30405932-30407168	IMR90	lung:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
34	TBP	chr16:30405803-30407373	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr16:30404861-30407531	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:30405707-30407343	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZBTB7A	chr16:30406157-30407580	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr16:30405790-30406252	K562	blood:	n/a	n/a
39	POLR2A	chr16:30405559-30407735	H1-neurons	neurons:	n/a	n/a
40	HEY1	chr16:30405822-30406247	K562	blood:	n/a	n/a
41	MAZ	chr16:30405531-30407619	IMR90	lung:	n/a	n/a
42	GABPA	chr16:30406238-30407066	MCF-7	breast:	n/a	n/a
43	TAF1	chr16:30405756-30406275	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr16:30405577-30407460	K562	blood:	n/a	n/a
45	CBX3	chr16:30405717-30406284	K562	blood:	n/a	n/a
46	YY1	chr16:30406206-30407458	HepG2	liver:	n/a	chr16:30407314-30407325 chr16:30406257-30406268 chr16:30407011-30407025 chr16:30406338-30406352
47	TAF1	chr16:30405905-30407513	H1-neurons	neurons:	n/a	n/a
48	SP2	chr16:30406206-30406907	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr16:30405956-30407153	K562	blood:	n/a	n/a
50	POLR2A	chr16:30405514-30407345	HUVEC	blood vessel:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
2	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
3	chr16:30077266..30078952-chr16:30405580..30407147,2	MCF-7	breast:
4	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
5	chr16:30405344..30408453-chr16:30439632..30442076,3	MCF-7	breast:
6	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
7	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
8	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
9	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
10	chr16:30405223..30408007-chr16:30567849..30569998,3	MCF-7	breast:
11	chr16:30405261..30407569-chr16:30455597..30457105,2	MCF-7	breast:
12	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
13	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
14	chr16:30406017..30408531-chr16:30454989..30457376,2	MCF-7	breast:
15	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
16	chr16:30405726..30407812-chr16:30662378..30664163,2	K562	blood:
17	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
18	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
19	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
20	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:

No data

Variant related genes	Relation type
ZNF48	TF binding region
SEPT1	TF binding region
ENSG00000179918	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000179958	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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3325798	chr16:30405476-30408024	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30405000-30407400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30405000-30407600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30405400-30406400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:30405400-30407600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:30405400-30407800	Active TSS	Fetal Kidney	kidney
6	chr16:30405600-30406400	Enhancers	Spleen	Spleen
7	chr16:30405600-30406600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:30405600-30407000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:30405600-30407200	Active TSS	Colonic Mucosa	Colon
10	chr16:30405600-30407400	Active TSS	Hela-S3	cervix
11	chr16:30405600-30407600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:30405600-30407800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr16:30405600-30407800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:30405800-30406400	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:30405800-30406400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:30405800-30406400	Weak transcription	Gastric	stomach
17	chr16:30405800-30407000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:30405800-30407200	Active TSS	Brain Anterior Caudate	brain
19	chr16:30405800-30407200	Active TSS	HMEC	breast
20	chr16:30405800-30407400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr16:30405800-30407400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr16:30405800-30407400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr16:30405800-30407400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr16:30405800-30407400	Active TSS	Right Ventricle	heart
25	chr16:30405800-30407400	Bivalent/Poised TSS	HepG2	liver
26	chr16:30405800-30407400	Active TSS	NHLF	lung
27	chr16:30405800-30407600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:30405800-30407600	Active TSS	Aorta	Aorta
29	chr16:30405800-30407800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:30405800-30407800	Active TSS	NHDF-Ad	bronchial
33	chr16:30405800-30408000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr16:30405800-30408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:30405800-30408000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr16:30405800-30408000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:30405800-30408000	Active TSS	Right Atrium	heart
38	chr16:30405800-30408200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:30406000-30406400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr16:30406000-30406400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:30406000-30406400	Active TSS	NHEK	skin
42	chr16:30406000-30406600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr16:30406000-30407000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:30406000-30407200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:30406000-30407200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr16:30406000-30407200	Active TSS	Fetal Muscle Trunk	muscle
47	chr16:30406000-30407200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:30406000-30407200	Active TSS	HSMM	muscle
49	chr16:30406000-30407400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:30406000-30407400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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