Variant report

Variant	rs60594059
Chromosome Location	chr7:99679720-99679721
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	YY1	chr7:99678997-99680482	K562	blood:	n/a	chr7:99679555-99679569 chr7:99679539-99679553
2	EGR1	chr7:99679105-99679887	MCF-7	breast:	n/a	chr7:99679539-99679552
3	CTCF	chr7:99679329-99679725	Spleen_OC	spleen:	n/a	chr7:99679557-99679575 chr7:99679559-99679572 chr7:99679552-99679573 chr7:99679558-99679574 chr7:99679559-99679572
4	POLR2A	chr7:99678608-99679730	HepG2	liver:	n/a	n/a
5	RELA	chr7:99678772-99679811	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:99678718-99679909	HL-60	blood:	n/a	n/a
7	POLR2A	chr7:99678693-99679981	K562	blood:	n/a	n/a
8	POLR2A	chr7:99678973-99679787	GM12891	blood:	n/a	n/a
9	SIN3A	chr7:99679140-99680465	GM12878	blood:	n/a	n/a
10	NFIC	chr7:99678856-99680038	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:99678454-99679773	H1-neurons	neurons:	n/a	n/a
12	GABPA	chr7:99678431-99679861	SK-N-SH	brain:	n/a	n/a
13	JUN	chr7:99678897-99680023	K562	blood:	n/a	chr7:99679467-99679477 chr7:99679466-99679478
14	CUX1	chr7:99679305-99679763	K562	blood:	n/a	n/a
15	JUND	chr7:99678844-99679959	MCF-7	breast:	n/a	chr7:99679466-99679477 chr7:99679467-99679477 chr7:99679466-99679478
16	CHD2	chr7:99679114-99679835	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:99678976-99679729	GM18526	blood:	n/a	n/a
18	MAFK	chr7:99679132-99679734	HepG2	liver:	n/a	chr7:99679461-99679476 chr7:99679461-99679477 chr7:99679466-99679475 chr7:99679464-99679480 chr7:99679510-99679526 chr7:99679511-99679525 chr7:99679465-99679479
19	ZBTB7A	chr7:99678961-99679752	K562	blood:	n/a	chr7:99679207-99679218
20	EGR1	chr7:99679072-99679814	MCF-7	breast:	n/a	chr7:99679539-99679552
21	MYC	chr7:99679445-99679735	GM12878	blood:	n/a	chr7:99679616-99679626
22	CTCF	chr7:99678430-99680094	A549	lung:	n/a	chr7:99679557-99679575 chr7:99679559-99679572 chr7:99679552-99679573 chr7:99679558-99679574 chr7:99679559-99679572
23	POLR2A	chr7:99679052-99679766	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr7:99679202-99679846	GM12878	blood:	n/a	n/a
25	TAF1	chr7:99679061-99679836	K562	blood:	n/a	n/a
26	TRIM28	chr7:99679088-99679855	K562	blood:	n/a	n/a
27	USF1	chr7:99679142-99679753	A549	lung:	n/a	chr7:99679145-99679161
28	SIN3AK20	chr7:99678580-99679775	K562	blood:	n/a	n/a
29	POLR2A	chr7:99678590-99679838	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr7:99679401-99679721	GM12892	blood:	n/a	chr7:99679557-99679575 chr7:99679559-99679572 chr7:99679552-99679573 chr7:99679558-99679574 chr7:99679559-99679572
31	UBTF	chr7:99678989-99679929	K562	blood:	n/a	n/a
32	GATA3	chr7:99679042-99679862	MCF-7	breast:	n/a	n/a
33	MAX	chr7:99678478-99679924	SK-N-SH	brain:	n/a	chr7:99679616-99679626
34	ZBTB33	chr7:99679178-99679744	HCT-116	colon:	n/a	n/a
35	POLR2A	chr7:99678508-99680450	HUVEC	blood vessel:	n/a	n/a
36	E2F6	chr7:99679091-99679751	K562	blood:	n/a	chr7:99679542-99679552
37	ATF2	chr7:99679136-99679789	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:99677700-99679758	SK-N-SH	brain:	n/a	n/a
39	CREB1	chr7:99678479-99679818	HepG2	liver:	n/a	n/a
40	MAX	chr7:99678454-99679941	SK-N-SH	brain:	n/a	chr7:99679616-99679626
41	EP300	chr7:99679110-99679772	A549	lung:	n/a	n/a
42	POLR2A	chr7:99678986-99679836	U87	brain:	n/a	n/a
43	MYC	chr7:99679107-99679810	HepG2	liver:	n/a	chr7:99679616-99679626
44	E2F6	chr7:99679159-99680013	H1-hESC	embryonic stem cell:	n/a	chr7:99679542-99679552
45	POLR2A	chr7:99679695-99680430	GM12878	blood:	n/a	n/a
46	MAX	chr7:99679153-99679752	Hela-S3	cervix:	n/a	chr7:99679616-99679626
47	RUNX3	chr7:99678933-99679937	GM12878	blood:	n/a	n/a
48	PAX5	chr7:99679054-99679815	GM12878	blood:	n/a	n/a
49	NR2F2	chr7:99679173-99680727	K562	blood:	n/a	n/a
50	EGR1	chr7:99679132-99679755	H1-hESC	embryonic stem cell:	n/a	chr7:99679539-99679552

No.	Distal block	Cell Line	Cell type
1	chr7:99611430..99615857-chr7:99675156..99681193,15	K562	blood:
2	chr7:99679340..99681053-chr7:99745802..99747683,2	K562	blood:
3	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
4	chr7:99677781..99680960-chr7:99753334..99755747,3	K562	blood:
5	chr7:99643901..99648827-chr7:99678011..99681180,5	MCF-7	breast:
6	chr17:56707923..56709541-chr7:99678823..99680678,2	MCF-7	breast:
7	chr7:99515767..99517509-chr7:99677745..99680762,3	K562	blood:
8	chr7:99034954..99037975-chr7:99677842..99679932,3	K562	blood:
9	chr7:99612275..99615910-chr7:99677885..99681193,8	K562	blood:
10	chr20:30192984..30193710-chr7:99679285..99680114,2	Hela-S3	cervix:
11	chr7:99611801..99614602-chr7:99679230..99681000,2	MCF-7	breast:
12	chr7:99679511..99680258-chr7:99728046..99728823,2	MCF-7	breast:
13	chr7:99577974..99580142-chr7:99679417..99681794,2	MCF-7	breast:
14	chr7:99668310..99676246-chr7:99677185..99681836,16	MCF-7	breast:
15	chr7:99678771..99681230-chrX:153686128..153688356,2	MCF-7	breast:
16	chr7:99678700..99680050-chr7:99698497..99699048,3	MCF-7	breast:
17	chr7:99095910..99098991-chr7:99677831..99680952,3	K562	blood:
18	chr7:99677604..99679757-chr7:100032184..100034035,2	K562	blood:
19	chr7:99678858..99680502-chr7:99868393..99870017,2	K562	blood:
20	chr7:99676617..99678184-chr7:99678757..99681254,2	MCF-7	breast:
21	chr7:99679133..99681399-chr7:100023910..100026674,3	K562	blood:
22	chr7:99515562..99518077-chr7:99677870..99680297,2	MCF-7	breast:
23	chr7:99645911..99648901-chr7:99677073..99680526,5	MCF-7	breast:
24	chr7:99612316..99614498-chr7:99678113..99681049,2	MCF-7	breast:
25	chr7:99647023..99648949-chr7:99679217..99680887,2	K562	blood:
26	chr7:99678150..99680840-chr7:99745802..99747768,2	K562	blood:
27	chr7:99646221..99648949-chr7:99678840..99680973,5	K562	blood:
28	chr7:99591865..99592813-chr7:99679412..99679994,2	K562	blood:
29	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:

Variant related genes	Relation type
ZNF3	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000214313	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000235077	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000239521	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000160844	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000106261	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4134907	1.00[AMR][1000 genomes]
rs4134908	1.00[AMR][1000 genomes]
rs4134921	1.00[AMR][1000 genomes]
rs56695509	1.00[AMR][1000 genomes]
rs57256111	0.84[AFR][1000 genomes]
rs59991229	1.00[AMR][1000 genomes]
rs60551236	1.00[AMR][1000 genomes]
rs73395916	1.00[AMR][1000 genomes]
rs73395928	1.00[AMR][1000 genomes]
rs73395975	1.00[AMR][1000 genomes]
rs73395997	1.00[AMR][1000 genomes]
rs73397503	1.00[AMR][1000 genomes]
rs73411443	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99677600-99680400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:99677800-99680600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:99678000-99679800	Active TSS	A549	lung
4	chr7:99678000-99680200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99678000-99680400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:99678000-99680400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:99678000-99680400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:99678000-99680400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:99678000-99680400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:99678000-99680400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:99678000-99680400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:99678000-99680400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:99678000-99680400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:99678000-99680400	Active TSS	Fetal Kidney	kidney
15	chr7:99678000-99681000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:99678200-99679800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:99678200-99679800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:99678200-99679800	Active TSS	Fetal Intestine Large	intestine
19	chr7:99678200-99679800	Active TSS	Ovary	ovary
20	chr7:99678200-99679800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:99678200-99679800	Active TSS	Hela-S3	cervix
22	chr7:99678200-99679800	Active TSS	HUVEC	blood vessel
23	chr7:99678200-99680000	Active TSS	Colon Smooth Muscle	Colon
24	chr7:99678200-99680200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:99678200-99680200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:99678200-99680200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:99678200-99680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:99678200-99680200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:99678200-99680200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:99678200-99680200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:99678200-99680400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:99678200-99680400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:99678200-99680400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:99678200-99680400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:99678200-99680400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:99678200-99680400	Active TSS	K562	blood
37	chr7:99678200-99680600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:99678400-99679800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:99678400-99679800	Active TSS	Fetal Intestine Small	intestine
40	chr7:99678400-99679800	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:99678400-99679800	Active TSS	Fetal Stomach	stomach
42	chr7:99678400-99679800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr7:99678400-99679800	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:99678400-99679800	Active TSS	GM12878-XiMat	blood
45	chr7:99678400-99679800	Active TSS	HMEC	breast
46	chr7:99678400-99680000	Active TSS	Fetal Lung	lung
47	chr7:99678400-99680000	Active TSS	Left Ventricle	heart
48	chr7:99678400-99680000	Active TSS	Pancreas	Pancrea
49	chr7:99678400-99680200	Active TSS	Colonic Mucosa	Colon
50	chr7:99678400-99680200	Active TSS	Psoas Muscle	Psoas

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