Variant report

Variant	rs1269214
Chromosome Location	chr19:36193679-36193680
allele	A/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	STAT3	chr19:36193087-36193699	GM12878	blood:	n/a	n/a
2	CUX1	chr19:36193146-36193760	GM12878	blood:	n/a	n/a
3	EBF1	chr19:36193093-36193899	GM12878	blood:	n/a	n/a
4	KAP1	chr19:36193093-36193806	U2OS	brain:	n/a	n/a
5	MTA3	chr19:36192897-36194080	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:36193001-36194079	GM12878	blood:	n/a	n/a
7	FOS	chr19:36193141-36193712	K562	blood:	n/a	chr19:36193478-36193487 chr19:36193417-36193426 chr19:36193361-36193370 chr19:36193313-36193322
8	RCOR1	chr19:36193150-36193765	HepG2	liver:	n/a	n/a
9	SP1	chr19:36192953-36193990	GM12878	blood:	n/a	chr19:36193408-36193429 chr19:36193358-36193379 chr19:36193673-36193687 chr19:36193310-36193322 chr19:36193598-36193611
10	POLR2A	chr19:36193611-36193889	Gliobla	brain:	n/a	n/a
11	POLR2A	chr19:36192900-36194052	GM12892	blood:	n/a	n/a
12	PML	chr19:36192844-36193964	GM12878	blood:	n/a	n/a
13	RCOR1	chr19:36193006-36193935	GM12878	blood:	n/a	n/a
14	SP2	chr19:36192992-36193742	HepG2	liver:	n/a	chr19:36193460-36193475 chr19:36193417-36193427 chr19:36193360-36193370
15	E2F6	chr19:36193070-36193864	K562	blood:	n/a	chr19:36193359-36193368 chr19:36193308-36193319 chr19:36193476-36193485
16	POLR2A	chr19:36193119-36194024	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr19:36193017-36193882	A549	lung:	n/a	n/a
18	MTA3	chr19:36193548-36194003	GM12878	blood:	n/a	n/a
19	E2F4	chr19:36193106-36193844	GM12878	blood:	n/a	chr19:36193359-36193368 chr19:36193476-36193485
20	ZNF263	chr19:36193046-36193793	HEK293-T-REx	kidney:	n/a	chr19:36193197-36193218
21	GABPA	chr19:36193168-36193994	MCF-7	breast:	n/a	n/a
22	JUND	chr19:36192981-36193814	A549	lung:	n/a	chr19:36193478-36193487 chr19:36193417-36193426 chr19:36193361-36193370 chr19:36193313-36193322
23	BCL3	chr19:36192937-36193932	A549	lung:	n/a	chr19:36193592-36193601 chr19:36193896-36193904 chr19:36193496-36193509
24	MAFF	chr19:36193260-36193793	HepG2	liver:	n/a	chr19:36193681-36193699
25	MAFK	chr19:36193125-36193761	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr19:36193086-36193911	HepG2	liver:	n/a	n/a
27	NFYA	chr19:36193127-36193729	GM12878	blood:	n/a	chr19:36193357-36193371 chr19:36193476-36193486 chr19:36193474-36193488 chr19:36193418-36193428 chr19:36193357-36193372 chr19:36193474-36193487 chr19:36193357-36193375 chr19:36193474-36193489 chr19:36193357-36193372 chr19:36193418-36193428 chr19:36193474-36193489
28	MAX	chr19:36193064-36193978	GM12878	blood:	n/a	n/a
29	SP1	chr19:36192879-36194047	A549	lung:	n/a	chr19:36193408-36193429 chr19:36193358-36193379 chr19:36193673-36193687 chr19:36193310-36193322 chr19:36193598-36193611
30	RFX5	chr19:36193091-36193803	GM12878	blood:	n/a	chr19:36193477-36193486 chr19:36193360-36193369 chr19:36193418-36193427
31	PBX3	chr19:36193139-36193889	GM12878	blood:	n/a	chr19:36193477-36193486 chr19:36193769-36193778 chr19:36193360-36193369 chr19:36193418-36193427
32	MAX	chr19:36193094-36193928	MCF-7	breast:	n/a	n/a
33	PAX5	chr19:36193069-36194108	GM12878	blood:	n/a	chr19:36193386-36193404 chr19:36193311-36193329 chr19:36193310-36193329
34	TAF1	chr19:36193084-36193971	PFSK-1	brain:	n/a	n/a
35	NFYB	chr19:36193003-36193880	Hela-S3	cervix:	n/a	chr19:36193357-36193371 chr19:36193476-36193486 chr19:36193417-36193432 chr19:36193474-36193488 chr19:36193418-36193428 chr19:36193357-36193372 chr19:36193354-36193369 chr19:36193474-36193487 chr19:36193474-36193489 chr19:36193357-36193372 chr19:36193418-36193428 chr19:36193474-36193489
36	BCL3	chr19:36192934-36193904	A549	lung:	n/a	chr19:36193592-36193601 chr19:36193896-36193904 chr19:36193496-36193509
37	NFYA	chr19:36193082-36194072	Hela-S3	cervix:	n/a	chr19:36193357-36193371 chr19:36193476-36193486 chr19:36193474-36193488 chr19:36193418-36193428 chr19:36193357-36193372 chr19:36193474-36193487 chr19:36193357-36193375 chr19:36193474-36193489 chr19:36193357-36193372 chr19:36193418-36193428 chr19:36193474-36193489
38	POLR2A	chr19:36193335-36193909	ProgFib	skin:	n/a	n/a
39	RUNX3	chr19:36192742-36193941	GM12878	blood:	n/a	n/a
40	MAX	chr19:36192847-36194114	A549	lung:	n/a	n/a
41	POLR2A	chr19:36193078-36193899	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:36192958-36194056	MCF-7	breast:	n/a	n/a
43	CHD1	chr19:36192998-36193863	GM12878	blood:	n/a	n/a
44	MAZ	chr19:36193139-36193771	Hela-S3	cervix:	n/a	n/a
45	E2F6	chr19:36193090-36193757	K562	blood:	n/a	chr19:36193359-36193368 chr19:36193308-36193319 chr19:36193476-36193485
46	POU2F2	chr19:36193005-36193834	GM12891	blood:	n/a	chr19:36193313-36193325
47	POLR2A	chr19:36193037-36194034	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:36193596-36193817	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:36193047-36193857	GM10847	blood:	n/a	n/a
50	CTCF	chr19:36193618-36193814	Spleen_OC	spleen:	n/a	chr19:36193787-36193808

No.	Distal block	Cell Line	Cell type
1	chr19:36134071..36136376-chr19:36193211..36195269,2	MCF-7	breast:
2	chr19:36193261..36195251-chr19:36208816..36211234,2	K562	blood:
3	chr19:36193001..36195251-chr19:36206737..36211234,4	K562	blood:
4	chr19:36184467..36185236-chr19:36193340..36194279,2	MCF-7	breast:
5	chr19:36190946..36193857-chr19:36221816..36224169,2	K562	blood:
6	chr19:36192706..36195143-chr19:36207502..36210108,2	MCF-7	breast:
7	chr19:36193425..36195138-chr19:36196726..36199415,4	K562	blood:
8	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105663	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs107068	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs173003	0.83[EUR][1000 genomes]
rs179570	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2242522	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2242523	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285421	0.84[EUR][1000 genomes]
rs231238	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs231244	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs231588	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs231591	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs231592	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55939240	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61218414	0.86[EUR][1000 genomes]
rs614225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs807478	0.82[EUR][1000 genomes]
rs807479	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9917056	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv961286	chr19:36187862-36199437	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv138418	chr19:36190656-36193931	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1269214	ZBTB32	cis	lung	GTEx
rs1269214	RN7SL765P	cis	Muscle Skeletal	GTEx
rs1269214	COX6B1	cis	Heart Left Ventricle	GTEx
rs1269214	COX6B1	cis	Muscle Skeletal	GTEx
rs1269214	AC002398.13	cis	Thyroid	GTEx
rs1269214	ZBTB32	cis	Thyroid	GTEx
rs1269214	ZBTB32	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36192600-36194000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:36192600-36194200	Flanking Active TSS	Dnd41	blood
3	chr19:36192800-36193800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr19:36192800-36193800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:36192800-36193800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:36192800-36193800	Active TSS	Brain Angular Gyrus	brain
7	chr19:36192800-36193800	Active TSS	Colon Smooth Muscle	Colon
8	chr19:36192800-36193800	Active TSS	Fetal Brain Female	brain
9	chr19:36192800-36193800	Active TSS	Rectal Smooth Muscle	rectum
10	chr19:36192800-36194000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:36192800-36194000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:36192800-36194000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:36192800-36194000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:36192800-36194000	Active TSS	Brain Germinal Matrix	brain
15	chr19:36192800-36194000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr19:36192800-36194000	Active TSS	Right Atrium	heart
17	chr19:36192800-36194200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:36192800-36194200	Active TSS	Brain Anterior Caudate	brain
19	chr19:36192800-36194200	Active TSS	Brain Hippocampus Middle	brain
20	chr19:36192800-36194200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:36192800-36194200	Active TSS	Right Ventricle	heart
22	chr19:36192800-36194200	Active TSS	A549	lung
23	chr19:36192800-36194200	Active TSS	GM12878-XiMat	blood
24	chr19:36192800-36194400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:36193000-36193800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:36193000-36193800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:36193000-36193800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:36193000-36193800	Active TSS	Fetal Brain Male	brain
29	chr19:36193000-36193800	Active TSS	Lung	lung
30	chr19:36193000-36193800	Flanking Active TSS	HMEC	breast
31	chr19:36193000-36194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr19:36193000-36194000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:36193000-36194000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:36193000-36194000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:36193000-36194000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:36193000-36194000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:36193000-36194000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:36193000-36194000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:36193000-36194000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr19:36193000-36194000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr19:36193000-36194000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr19:36193000-36194000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:36193000-36194000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:36193000-36194000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr19:36193000-36194000	Active TSS	Aorta	Aorta
46	chr19:36193000-36194000	Flanking Active TSS	Liver	Liver
47	chr19:36193000-36194000	Active TSS	Fetal Heart	heart
48	chr19:36193000-36194000	Active TSS	Fetal Kidney	kidney
49	chr19:36193000-36194000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr19:36193000-36194000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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