Variant report

Variant	rs72561765
Chromosome Location	chr9:19127481-19127482
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	EBF1	chr9:19127351-19127727	GM12878	blood:	n/a	n/a
2	TBP	chr9:19127027-19127796	K562	blood:	n/a	n/a
3	PML	chr9:19126903-19129044	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:19126961-19129115	GM18505	blood:	n/a	n/a
5	POLR2A	chr9:19127160-19127860	K562	blood:	n/a	n/a
6	YY1	chr9:19127237-19128562	GM12878	blood:	n/a	chr9:19127360-19127374 chr9:19128323-19128335
7	SIN3AK20	chr9:19127284-19127627	HepG2	liver:	n/a	n/a
8	TAF7	chr9:19127009-19127873	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:19127177-19127843	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr9:19127236-19127835	MCF-7	breast:	n/a	n/a
11	ZNF143	chr9:19127077-19127890	GM12878	blood:	n/a	chr9:19127746-19127764 chr9:19127741-19127760
12	USF1	chr9:19127265-19127794	A549	lung:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
13	POLR2A	chr9:19126982-19127803	ProgFib	skin:	n/a	n/a
14	YY1	chr9:19127176-19127929	HepG2	liver:	n/a	chr9:19127360-19127374
15	TAF1	chr9:19126880-19129183	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr9:19127051-19127714	K562	blood:	n/a	n/a
17	POLR2A	chr9:19126680-19129198	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR3C1	chr9:19127460-19127646	A549	lung:	n/a	chr9:19127569-19127583 chr9:19127568-19127584 chr9:19127569-19127583
19	JUND	chr9:19127387-19127700	K562	blood:	n/a	n/a
20	BHLHE40	chr9:19127346-19127734	HepG2	liver:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
21	SIN3A	chr9:19126981-19129114	H1-hESC	embryonic stem cell:	n/a	chr9:19127334-19127347 chr9:19128968-19128977
22	MYC	chr9:19127412-19127753	HepG2	liver:	n/a	chr9:19127552-19127561 chr9:19127551-19127562
23	FOXA1	chr9:19127339-19127711	HepG2	liver:	n/a	n/a
24	RAD21	chr9:19127427-19127627	HepG2	liver:	n/a	n/a
25	SP1	chr9:19127383-19127821	A549	lung:	n/a	chr9:19127532-19127541 chr9:19127519-19127528
26	POLR2A	chr9:19126968-19129103	GM18951	blood:	n/a	n/a
27	E2F6	chr9:19127097-19127855	K562	blood:	n/a	n/a
28	POU2F2	chr9:19127355-19127710	GM12878	blood:	n/a	n/a
29	POLR2A	chr9:19125907-19129263	GM12878	blood:	n/a	n/a
30	MTA3	chr9:19126913-19128692	GM12878	blood:	n/a	n/a
31	NR2F2	chr9:19127295-19127887	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:19127480-19127630	GM12868	blood:	n/a	n/a
33	POLR2A	chr9:19127031-19129061	GM12878	blood:	n/a	n/a
34	RCOR1	chr9:19127024-19127709	GM12878	blood:	n/a	n/a
35	NFIC	chr9:19126866-19127873	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:19127118-19128007	A549	lung:	n/a	n/a
37	EP300	chr9:19127235-19127842	HepG2	liver:	n/a	chr9:19127677-19127693
38	POLR2A	chr9:19126966-19129070	GM12891	blood:	n/a	n/a
39	USF1	chr9:19127258-19127769	A549	lung:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
40	EP300	chr9:19127059-19127956	GM12878	blood:	n/a	chr9:19127677-19127693 chr9:19127897-19127907
41	POLR2A	chr9:19126962-19128602	H1-hESC	embryonic stem cell:	n/a	n/a
42	EBF1	chr9:19126977-19128070	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:19127034-19127673	HepG2	liver:	n/a	n/a
44	MAX	chr9:19127271-19127853	MCF-7	breast:	n/a	chr9:19127552-19127561 chr9:19127551-19127562
45	YY1	chr9:19127367-19128084	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr9:19126848-19129066	GM12878	blood:	n/a	n/a
47	MAZ	chr9:19126915-19128247	GM12878	blood:	n/a	chr9:19127552-19127561 chr9:19127551-19127562
48	TCF12	chr9:19126991-19128278	A549	lung:	n/a	n/a
49	POLR2A	chr9:19127022-19127756	HUVEC	blood vessel:	n/a	n/a
50	MAZ	chr9:19127126-19127891	K562	blood:	n/a	chr9:19127552-19127561 chr9:19127551-19127562

No.	Distal block	Cell Line	Cell type
1	chr9:19125987..19127822-chr9:19460752..19462438,2	MCF-7	breast:
2	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
3	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
4	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
5	chr9:19047624..19049710-chr9:19124952..19127835,2	MCF-7	breast:
6	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
7	chr9:19047688..19050062-chr9:19125989..19129041,3	K562	blood:
8	chr9:19101057..19103224-chr9:19126510..19128425,2	MCF-7	breast:

Variant related genes	Relation type
PLIN2	TF binding region
ENSG00000147874	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000231909	Chromatin interaction
ENSG00000155876	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv8423	chr9:19125975-19128690	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv2757322	chr9:19126476-19161145	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2759676	chr9:19126476-19161145	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv892702	chr9:19126565-19298581	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr9:19125600-19129000	Active TSS	Right Atrium	heart
2	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
4	chr9:19126200-19127800	Active TSS	Pancreas	Pancrea
5	chr9:19126200-19128200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:19126200-19128200	Active TSS	Hela-S3	cervix
7	chr9:19126200-19128600	Active TSS	NHLF	lung
8	chr9:19126200-19128800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:19126200-19129000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr9:19126200-19129000	Active TSS	Brain Substantia Nigra	brain
11	chr9:19126200-19129000	Active TSS	Colon Smooth Muscle	Colon
12	chr9:19126200-19129000	Active TSS	Fetal Kidney	kidney
13	chr9:19126200-19129000	Active TSS	Psoas Muscle	Psoas
14	chr9:19126200-19129000	Active TSS	Rectal Smooth Muscle	rectum
15	chr9:19126200-19129400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr9:19126400-19127600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:19126400-19127800	Active TSS	NHEK	skin
18	chr9:19126400-19128000	Active TSS	Fetal Muscle Trunk	muscle
19	chr9:19126400-19128000	Active TSS	K562	blood
20	chr9:19126400-19128200	Active TSS	Stomach Smooth Muscle	stomach
21	chr9:19126400-19128400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:19126400-19128400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:19126400-19128400	Active TSS	Gastric	stomach
24	chr9:19126400-19128600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:19126400-19128600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:19126400-19128600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:19126400-19128600	Active TSS	Brain Hippocampus Middle	brain
28	chr9:19126400-19128600	Active TSS	Esophagus	oesophagus
29	chr9:19126400-19128600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr9:19126400-19128600	Active TSS	NHDF-Ad	bronchial
31	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:19126400-19129000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:19126400-19129000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr9:19126400-19129000	Active TSS	Duodenum Mucosa	Duodenum
36	chr9:19126400-19129000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr9:19126400-19129000	Active TSS	Left Ventricle	heart
38	chr9:19126400-19129000	Active TSS	Lung	lung
39	chr9:19126400-19129000	Active TSS	Ovary	ovary
40	chr9:19126400-19129000	Active TSS	Right Ventricle	heart
41	chr9:19126400-19130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr9:19126400-19130400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr9:19126600-19127800	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr9:19126600-19127800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:19126600-19127800	Active TSS	Placenta	Placenta
46	chr9:19126600-19128000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:19126600-19128000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:19126600-19128000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr9:19126600-19128000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:19126600-19128000	Active TSS	Adipose Nuclei	Adipose

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