Variant report

Variant	rs7251109
Chromosome Location	chr19:18451361-18451362
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	ZMIZ1	chr19:18451122-18451667	K562	blood:	n/a	n/a
2	SIN3AK20	chr19:18451187-18451757	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:18451180-18451668	GM18526	blood:	n/a	n/a
4	POLR2A	chr19:18451120-18451655	GM15510	blood:	n/a	n/a
5	POLR2A	chr19:18451154-18451658	HUVEC	blood vessel:	n/a	n/a
6	RCOR1	chr19:18451126-18452004	HepG2	liver:	n/a	n/a
7	ZNF143	chr19:18450576-18451474	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:18451253-18451559	A549	lung:	n/a	n/a
9	MXI1	chr19:18451165-18451564	HepG2	liver:	n/a	n/a
10	SIN3A	chr19:18451193-18452283	GM12878	blood:	n/a	chr19:18451203-18451212 chr19:18451435-18451443 chr19:18452217-18452226 chr19:18451607-18451616 chr19:18452073-18452086 chr19:18451364-18451377 chr19:18451364-18451375 chr19:18451768-18451781
11	SIN3A	chr19:18451113-18452363	H1-hESC	embryonic stem cell:	n/a	chr19:18451203-18451212 chr19:18451435-18451443 chr19:18452217-18452226 chr19:18451607-18451616 chr19:18452073-18452086 chr19:18451364-18451377 chr19:18451364-18451375 chr19:18451768-18451781
12	IRF1	chr19:18451188-18451451	K562	blood:	n/a	chr19:18451396-18451410 chr19:18451306-18451320
13	POLR2A	chr19:18451255-18451651	K562	blood:	n/a	n/a
14	HDAC2	chr19:18451078-18451658	HepG2	liver:	n/a	n/a
15	PAX5	chr19:18451128-18451521	GM12878	blood:	n/a	n/a
16	EGR1	chr19:18451087-18451659	GM12878	blood:	n/a	chr19:18451569-18451582 chr19:18451324-18451333 chr19:18451569-18451582 chr19:18451569-18451582 chr19:18451342-18451355 chr19:18451572-18451581 chr19:18451305-18451314 chr19:18451570-18451581 chr19:18451572-18451582 chr19:18451302-18451315 chr19:18451307-18451317 chr19:18451569-18451582 chr19:18451352-18451361
17	TEAD4	chr19:18451016-18451557	K562	blood:	n/a	n/a
18	MTA3	chr19:18450903-18451414	GM12878	blood:	n/a	n/a
19	GABPA	chr19:18450947-18451688	K562	blood:	n/a	chr19:18451307-18451316
20	ZNF143	chr19:18450576-18451436	K562	blood:	n/a	n/a
21	ZBTB7A	chr19:18451253-18451500	HepG2	liver:	n/a	n/a
22	MAZ	chr19:18451202-18451444	HepG2	liver:	n/a	chr19:18451380-18451390
23	POLR2A	chr19:18451109-18451741	H1-neurons	neurons:	n/a	n/a
24	FOXP2	chr19:18451210-18451620	PFSK-1	brain:	n/a	n/a
25	USF1	chr19:18451223-18451493	SK-N-SH_RA	brain:	n/a	chr19:18451417-18451433
26	MAX	chr19:18451020-18452521	K562	blood:	n/a	chr19:18452220-18452229 chr19:18452218-18452227 chr19:18452217-18452227 chr19:18452218-18452227 chr19:18451380-18451390 chr19:18451569-18451579 chr19:18451556-18451566 chr19:18452218-18452227
27	EGR1	chr19:18451094-18451697	H1-hESC	embryonic stem cell:	n/a	chr19:18451569-18451582 chr19:18451324-18451333 chr19:18451569-18451582 chr19:18451569-18451582 chr19:18451342-18451355 chr19:18451572-18451581 chr19:18451305-18451314 chr19:18451570-18451581 chr19:18451572-18451582 chr19:18451302-18451315 chr19:18451307-18451317 chr19:18451569-18451582 chr19:18451352-18451361
28	EGR1	chr19:18451179-18451664	GM12878	blood:	n/a	chr19:18451569-18451582 chr19:18451324-18451333 chr19:18451569-18451582 chr19:18451569-18451582 chr19:18451342-18451355 chr19:18451572-18451581 chr19:18451305-18451314 chr19:18451570-18451581 chr19:18451572-18451582 chr19:18451302-18451315 chr19:18451307-18451317 chr19:18451569-18451582 chr19:18451352-18451361
29	POLR2A	chr19:18451130-18451659	GM12892	blood:	n/a	n/a
30	POLR2A	chr19:18451132-18451649	GM12878	blood:	n/a	n/a
31	STAT5A	chr19:18450984-18451369	GM12878	blood:	n/a	n/a
32	MAZ	chr19:18451109-18452580	GM12878	blood:	n/a	chr19:18452220-18452229 chr19:18452218-18452227 chr19:18452217-18452227 chr19:18452218-18452227 chr19:18451380-18451390 chr19:18451569-18451579 chr19:18451556-18451566 chr19:18452218-18452227
33	POLR2A	chr19:18451112-18452199	MCF-7	breast:	n/a	n/a
34	YY1	chr19:18451034-18451553	GM12878	blood:	n/a	chr19:18451321-18451335 chr19:18451307-18451316
35	POLR2A	chr19:18451093-18451791	HUVEC	blood vessel:	n/a	n/a
36	RCOR1	chr19:18450614-18451557	K562	blood:	n/a	n/a
37	MXI1	chr19:18451321-18451538	Hela-S3	cervix:	n/a	n/a
38	MYC	chr19:18451146-18451576	K562	blood:	n/a	chr19:18451380-18451390 chr19:18451556-18451566
39	TEAD4	chr19:18451100-18451501	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr19:18451122-18451389	SK-N-SH_RA	brain:	n/a	chr19:18451321-18451335 chr19:18451307-18451316
41	CEBPD	chr19:18451142-18451539	HepG2	liver:	n/a	n/a
42	CHD1	chr19:18451224-18451478	GM12878	blood:	n/a	chr19:18451308-18451318 chr19:18451375-18451385
43	RUNX3	chr19:18450931-18451480	GM12878	blood:	n/a	n/a
44	RCOR1	chr19:18450565-18451640	IMR90	lung:	n/a	n/a
45	CHD2	chr19:18451028-18451585	K562	blood:	n/a	chr19:18451308-18451318 chr19:18451375-18451385
46	TCF12	chr19:18450954-18451388	A549	lung:	n/a	n/a
47	MYC	chr19:18451227-18451587	MCF-7	breast:	n/a	chr19:18451380-18451390 chr19:18451569-18451579 chr19:18451556-18451566
48	POLR2A	chr19:18451143-18451685	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr19:18450439-18451669	K562	blood:	n/a	n/a
50	MXI1	chr19:18450386-18452552	SK-N-SH	brain:	n/a	chr19:18452040-18452049 chr19:18452217-18452226 chr19:18452217-18452226 chr19:18452219-18452228

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18451326-18451376	SKMC	muscle:	n/a
2	chr19:18451326-18451376	PANC-1	pancreas:	n/a
3	chr19:18451326-18451376	AG09309	skin:	n/a
4	chr19:18451326-18451376	AG09319	gingival:	n/a
5	chr19:18451324-18451374	HUVEC	blood vessel:	n/a
6	chr19:18451326-18451376	SK-N-SH_RA	brain:	n/a
7	chr19:18451326-18451376	SK-N-SH	brain:	n/a
8	chr19:18451324-18451374	SKMC	muscle:	n/a
9	chr19:18451326-18451376	PrEC	prostate:	n/a
10	chr19:18451324-18451374	HCT-116	colon:	n/a
11	chr19:18451324-18451374	ProgFib	skin:	n/a
12	chr19:18451324-18451374	HepG2	liver:	n/a
13	chr19:18451326-18451376	AoSMC	blood vessel:	n/a
14	chr19:18451326-18451376	H1-hESC	embryonic stem cell:	embryo
15	chr19:18451324-18451374	Hepatocyte	liver:	n/a
16	chr19:18451324-18451374	LNCaP	prostate:	n/a
17	chr19:18451324-18451374	NB4	blood:	n/a
18	chr19:18451324-18451374	U87	brain:	n/a
19	chr19:18451326-18451376	SK-N-MC	brain:	n/a
20	chr19:18451324-18451374	A549	lung:	n/a
21	chr19:18451324-18451374	CMK	blood:	n/a
22	chr19:18451326-18451376	PFSK-1	brain:	n/a
23	chr19:18451324-18451374	K562	blood:	n/a
24	chr19:18451324-18451374	Hela-S3	cervix:	n/a
25	chr19:18451324-18451374	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:18451324-18451374	HIPEpiC	eye:	n/a
27	chr19:18451324-18451374	IMR90	lung:	fetal
28	chr19:18451324-18451374	AoSMC	blood vessel:	n/a
29	chr19:18451324-18451374	GM19239	blood:	n/a
30	chr19:18451326-18451376	HMEC	breast:	n/a
31	chr19:18451324-18451374	MCF10A-Er-Src	breast:	n/a
32	chr19:18451324-18451374	NHBE	bronchial:	n/a
33	chr19:18451324-18451374	PrEC	prostate:	n/a
34	chr19:18451326-18451376	ovcar-3	ovarian:	n/a
35	chr19:18451326-18451376	ProgFib	skin:	n/a
36	chr19:18451324-18451374	SK-N-MC	brain:	n/a
37	chr19:18451326-18451376	HRCEpiC	kidney:	n/a
38	chr19:18451324-18451374	HCF	heart:	n/a
39	chr19:18451326-18451376	GM12892	blood:	n/a
40	chr19:18451324-18451374	HL-60	blood:	n/a
41	chr19:18451326-18451376	BJ	skin:	n/a
42	chr19:18451326-18451376	ECC-1	luminal epithelium:	n/a
43	chr19:18451324-18451374	HRE	kidney:	n/a
44	chr19:18451326-18451376	RPTEC	kidney:	n/a
45	chr19:18451324-18451374	SAEC	small airway:	n/a
46	chr19:18451326-18451376	K562	blood:	n/a
47	chr19:18451326-18451376	HEK293	kidney:	embryo
48	chr19:18451324-18451374	HCM	heart:	n/a
49	chr19:18451324-18451374	RPTEC	kidney:	n/a
50	chr19:18451324-18451374	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18263193..18264879-chr19:18450426..18452528,2	K562	blood:
2	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
3	chr19:18451193..18453522-chr19:18547468..18550080,2	K562	blood:
4	chr19:18263958..18265620-chr19:18450814..18453445,2	K562	blood:
5	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
6	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
7	chr19:18450121..18451677-chr19:18546960..18548489,2	MCF-7	breast:
8	chr19:18429634..18433959-chr19:18449815..18453704,5	K562	blood:
9	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
10	chr19:18449115..18453939-chr19:18483257..18487784,7	K562	blood:
11	chr19:18334471..18336688-chr19:18451268..18453619,2	K562	blood:
12	chr19:18432103..18434677-chr19:18449671..18452769,4	MCF-7	breast:
13	chr19:18442556..18446502-chr19:18450638..18453378,4	MCF-7	breast:
14	chr19:18390145..18394362-chr19:18451018..18457221,11	MCF-7	breast:
15	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
16	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
17	chr19:18441208..18448128-chr19:18448861..18453326,10	K562	blood:

Variant related genes	Relation type
PGPEP1	TF binding region
PGPEP1	CpG island
ENSG00000239821	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000264175	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6512257	0.96[AFR][1000 genomes]
rs8111491	0.92[AFR][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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription 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 miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
5	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
6	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18450600-18451400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:18450600-18452000	Flanking Bivalent TSS/Enh	Dnd41	blood
3	chr19:18450600-18452400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr19:18450600-18452800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:18450600-18452800	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr19:18450800-18451400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:18450800-18451400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:18450800-18451400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr19:18450800-18451400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:18450800-18451400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:18450800-18451400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:18450800-18451400	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr19:18450800-18451400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr19:18450800-18451400	Flanking Active TSS	Lung	lung
15	chr19:18450800-18451400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr19:18450800-18451400	Flanking Active TSS	Spleen	Spleen
17	chr19:18450800-18451400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr19:18450800-18451600	Flanking Active TSS	Esophagus	oesophagus
19	chr19:18450800-18452000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:18450800-18452200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:18450800-18452200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:18450800-18452200	Active TSS	Colon Smooth Muscle	Colon
23	chr19:18450800-18452400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr19:18450800-18452400	Active TSS	Fetal Brain Female	brain
25	chr19:18450800-18452600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:18450800-18452600	Enhancers	Fetal Heart	heart
27	chr19:18450800-18452600	Active TSS	Rectal Smooth Muscle	rectum
28	chr19:18450800-18452800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:18451000-18451400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:18451000-18451400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:18451000-18451400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:18451000-18451400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18451000-18451400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr19:18451000-18451400	Flanking Active TSS	Liver	Liver
35	chr19:18451000-18451400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr19:18451000-18451400	Flanking Active TSS	Thymus	Thymus
37	chr19:18451000-18451400	Flanking Active TSS	HUVEC	blood vessel
38	chr19:18451000-18452000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr19:18451000-18452200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18451000-18452200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr19:18451000-18452200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:18451000-18452200	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr19:18451000-18452200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr19:18451000-18452200	Active TSS	Aorta	Aorta
45	chr19:18451000-18452200	Active TSS	Ovary	ovary
46	chr19:18451000-18452200	Flanking Active TSS	HMEC	breast
47	chr19:18451000-18452200	Active TSS	HSMM	muscle
48	chr19:18451000-18452200	Active TSS	HSMMtube	muscle
49	chr19:18451000-18452200	Active TSS	NHLF	lung
50	chr19:18451000-18452400	Active TSS	H9 Cell Line	embryonic stem cell

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