Variant report

Variant	rs560526604
Chromosome Location	chr16:81130096-81130097
allele	C/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	IRF3	chr16:81130060-81130199	GM12878	blood:	n/a	chr16:81130079-81130088
2	TAF1	chr16:81129338-81130352	HepG2	liver:	n/a	n/a
3	IRF1	chr16:81129822-81130764	K562	blood:	n/a	chr16:81130079-81130088 chr16:81130249-81130263
4	POLR2A	chr16:81129529-81130137	MCF-7	breast:	n/a	n/a
5	ELF1	chr16:81129978-81130388	A549	lung:	n/a	n/a
6	STAT1	chr16:81129954-81130300	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:81129391-81130165	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr16:81129560-81130293	HUVEC	blood vessel:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81129714-81129723 chr16:81130244-81130254
9	POLR2A	chr16:81129215-81130301	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr16:81129423-81130199	MCF-7	breast:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81129714-81129723
11	MAZ	chr16:81129366-81130514	K562	blood:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81129714-81129723 chr16:81130244-81130254
12	MAX	chr16:81129132-81130754	HCT-116	colon:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
13	MYC	chr16:81129248-81130850	K562	blood:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
14	ELK4	chr16:81130032-81130719	Hela-S3	cervix:	n/a	chr16:81130177-81130188
15	CBX3	chr16:81129843-81131209	K562	blood:	n/a	n/a
16	GABPA	chr16:81129936-81130497	A549	lung:	n/a	chr16:81130250-81130259
17	MAX	chr16:81129108-81130531	Hela-S3	cervix:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
18	RCOR1	chr16:81129976-81130459	K562	blood:	n/a	n/a
19	TAF1	chr16:81129848-81130160	K562	blood:	n/a	n/a
20	CHD2	chr16:81129488-81130389	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr16:81129998-81130266	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF1	chr16:81130024-81130677	K562	blood:	n/a	n/a
23	POLR2A	chr16:81129873-81130333	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr16:81129862-81130866	K562	blood:	n/a	n/a
25	SP2	chr16:81129852-81130372	HepG2	liver:	n/a	chr16:81130077-81130087
26	POLR2A	chr16:81129237-81130378	Hela-S3	cervix:	n/a	n/a
27	BHLHE40	chr16:81129357-81130537	K562	blood:	n/a	n/a
28	CHD2	chr16:81129919-81130353	GM12878	blood:	n/a	n/a
29	MAX	chr16:81129866-81130496	K562	blood:	n/a	chr16:81130285-81130295 chr16:81130244-81130254
30	JUND	chr16:81129931-81131545	K562	blood:	n/a	chr16:81130077-81130086 chr16:81131118-81131130 chr16:81131120-81131128 chr16:81130249-81130258
31	MAX	chr16:81129911-81130610	A549	lung:	n/a	chr16:81130285-81130295 chr16:81130244-81130254
32	SRF	chr16:81129845-81130934	MCF-7	breast:	n/a	chr16:81130550-81130568
33	ELF1	chr16:81129980-81130483	HepG2	liver:	n/a	n/a
34	MAX	chr16:81129205-81130853	MCF-7	breast:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
35	TCF12	chr16:81129839-81130489	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr16:81129378-81130490	NB4	blood:	n/a	n/a
37	HDAC2	chr16:81129855-81130540	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:81129447-81130105	HepG2	liver:	n/a	n/a
39	EGR1	chr16:81129851-81130276	H1-hESC	embryonic stem cell:	n/a	chr16:81130250-81130260 chr16:81130058-81130072 chr16:81129988-81130002 chr16:81130249-81130259 chr16:81130002-81130016
40	POLR2A	chr16:81129555-81130407	GM15510	blood:	n/a	n/a
41	POLR2A	chr16:81129479-81131151	K562	blood:	n/a	n/a
42	ELF1	chr16:81129422-81130321	GM12878	blood:	n/a	n/a
43	CCNT2	chr16:81129369-81130530	K562	blood:	n/a	chr16:81130250-81130259
44	ZNF143	chr16:81130061-81130203	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr16:81130049-81130507	Hela-S3	cervix:	n/a	n/a
46	MAX	chr16:81129308-81130449	H1-hESC	embryonic stem cell:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81130285-81130295 chr16:81129714-81129723 chr16:81130244-81130254
47	SIN3A	chr16:81129867-81130432	GM12878	blood:	n/a	n/a
48	TBP	chr16:81129424-81130502	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr16:81129563-81130167	MCF-7	breast:	n/a	chr16:81129712-81129721 chr16:81129715-81129722 chr16:81129713-81129723 chr16:81129713-81129724 chr16:81129714-81129723
50	POLR2A	chr16:81129631-81130474	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81130092-81130142	Hela-S3	cervix:	n/a
2	chr16:81130092-81130142	HCM	heart:	n/a
3	chr16:81130092-81130142	GM19239	blood:	n/a
4	chr16:81130092-81130142	HCF	heart:	n/a
5	chr16:81130092-81130142	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:81130092-81130142	MCF-7	breast:	n/a
7	chr16:81130092-81130142	HRE	kidney:	n/a
8	chr16:81130092-81130142	HMEC	breast:	n/a
9	chr16:81130092-81130142	GM12878	blood:	n/a
10	chr16:81130092-81130142	HAEpiC	amniotic membrane:	n/a
11	chr16:81130092-81130142	HUVEC	blood vessel:	n/a
12	chr16:81130092-81130142	BE2_C	brain:	n/a
13	chr16:81130092-81130142	Hepatocyte	liver:	n/a
14	chr16:81130092-81130142	CMK	blood:	n/a
15	chr16:81130092-81130142	GM06990	blood:	n/a
16	chr16:81130092-81130142	SK-N-SH_RA	brain:	n/a
17	chr16:81130092-81130142	AoSMC	blood vessel:	n/a
18	chr16:81130092-81130142	K562	blood:	n/a
19	chr16:81130092-81130142	SK-N-SH	brain:	n/a
20	chr16:81130092-81130142	NHDF-neo	bronchial:	n/a
21	chr16:81130092-81130142	BJ	skin:	n/a
22	chr16:81130092-81130142	SK-N-MC	brain:	n/a
23	chr16:81130092-81130142	T-47D	breast:	n/a
24	chr16:81130092-81130142	PANC-1	pancreas:	n/a
25	chr16:81130092-81130142	HL-60	blood:	n/a
26	chr16:81130092-81130142	HEK293	kidney:	embryo
27	chr16:81130092-81130142	Caco-2	colon:	n/a
28	chr16:81130092-81130142	HIPEpiC	eye:	n/a
29	chr16:81130092-81130142	SKMC	muscle:	n/a
30	chr16:81130092-81130142	GM12892	blood:	n/a
31	chr16:81130092-81130142	ProgFib	skin:	n/a
32	chr16:81130092-81130142	NT2-D1	testis:	n/a
33	chr16:81130092-81130142	U87	brain:	n/a
34	chr16:81130092-81130142	HepG2	liver:	n/a
35	chr16:81130092-81130142	Jurkat	blood:	n/a
36	chr16:81130092-81130142	NHBE	bronchial:	n/a
37	chr16:81130092-81130142	AG10803	skin:	n/a
38	chr16:81130092-81130142	PrEC	prostate:	n/a
39	chr16:81130092-81130142	HCT-116	colon:	n/a
40	chr16:81130092-81130142	PFSK-1	brain:	n/a
41	chr16:81130092-81130142	NB4	blood:	n/a
42	chr16:81130092-81130142	ECC-1	luminal epithelium:	n/a
43	chr16:81130092-81130142	GM12891	blood:	n/a
44	chr16:81130092-81130142	HRCEpiC	kidney:	n/a
45	chr16:81130092-81130142	H1-hESC	embryonic stem cell:	embryo
46	chr16:81130092-81130142	HRPEpiC	eye:	n/a
47	chr16:81130092-81130142	HEEpiC	esophagus:	n/a
48	chr16:81130092-81130142	AG04449	skin:	fetal
49	chr16:81130092-81130142	ovcar-3	ovarian:	n/a
50	chr16:81130092-81130142	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81062101..81064821-chr16:81128185..81130104,2	MCF-7	breast:
2	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
3	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
4	chr16:81040036..81041738-chr16:81128465..81130557,3	MCF-7	breast:
5	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
6	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
7	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
8	chr16:81130019..81131773-chr16:81135530..81138449,2	K562	blood:
9	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
10	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
11	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
12	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
13	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
14	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
15	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
16	chr16:81049357..81051527-chr16:81129457..81131471,2	K562	blood:
17	chr16:81049357..81051775-chr16:81129457..81132672,3	K562	blood:

Variant related genes	Relation type
GCSH	TF binding region
GCSH	CpG island
ENSG00000166473	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000252608	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000103121	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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
5	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81128000-81130400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:81128000-81130400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:81128200-81130200	Active TSS	NH-A	brain
4	chr16:81128200-81130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:81128200-81130600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:81128400-81130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:81128400-81130200	Active TSS	NHLF	lung
8	chr16:81128400-81130400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81128400-81130400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:81128400-81130400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:81128400-81130400	Active TSS	Brain Anterior Caudate	brain
12	chr16:81128400-81130400	Active TSS	A549	lung
13	chr16:81128400-81130400	Active TSS	HSMM	muscle
14	chr16:81128400-81130600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:81128400-81130600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:81128400-81130600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:81128400-81130600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:81128600-81130200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:81128600-81130200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:81128600-81130200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr16:81128600-81130200	Active TSS	Adipose Nuclei	Adipose
22	chr16:81128600-81130200	Active TSS	Fetal Lung	lung
23	chr16:81128600-81130200	Active TSS	Hela-S3	cervix
24	chr16:81128600-81130200	Active TSS	K562	blood
25	chr16:81128600-81130400	Active TSS	Primary T cells from cord blood	blood
26	chr16:81128600-81130400	Active TSS	Brain Angular Gyrus	brain
27	chr16:81128600-81130400	Active TSS	Brain Cingulate Gyrus	brain
28	chr16:81128600-81130400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr16:81128600-81130400	Active TSS	Ovary	ovary
30	chr16:81128600-81130600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr16:81128600-81130600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr16:81128800-81130200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:81128800-81130200	Active TSS	Stomach Smooth Muscle	stomach
34	chr16:81128800-81130200	Active TSS	Thymus	Thymus
35	chr16:81128800-81130200	Active TSS	HepG2	liver
36	chr16:81128800-81130200	Active TSS	NHDF-Ad	bronchial
37	chr16:81128800-81130200	Active TSS	Osteobl	bone
38	chr16:81128800-81130400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:81128800-81130400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:81128800-81130400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:81128800-81130400	Active TSS	Fetal Brain Female	brain
42	chr16:81128800-81130400	Active TSS	Fetal Intestine Large	intestine
43	chr16:81128800-81130400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr16:81128800-81130400	Active TSS	Psoas Muscle	Psoas
45	chr16:81128800-81130400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr16:81128800-81130600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:81128800-81130600	Active TSS	Fetal Muscle Trunk	muscle
48	chr16:81129000-81130200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:81129000-81130200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr16:81129000-81130200	Active TSS	Fetal Muscle Leg	muscle

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