Variant report

Variant	rs547042698
Chromosome Location	chr19:37262571-37262572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:152)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:152 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37262525-37262753	HepG2	liver:	n/a	n/a
2	GTF2F1	chr19:37262533-37263196	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:37262422-37263118	K562	blood:	n/a	n/a
4	SRF	chr19:37262474-37262715	K562	blood:	n/a	chr19:37262584-37262602
5	HEY1	chr19:37262262-37263087	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:37262124-37263091	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr19:37262382-37264272	K562	blood:	n/a	n/a
8	MYBL2	chr19:37262392-37262870	HepG2	liver:	n/a	n/a
9	MXI1	chr19:37262372-37264557	IMR90	lung:	n/a	n/a
10	POLR2A	chr19:37262398-37263006	HUVEC	blood vessel:	n/a	n/a
11	CEBPB	chr19:37262492-37262829	IMR90	lung:	n/a	n/a
12	SRF	chr19:37262432-37262682	HepG2	liver:	n/a	chr19:37262584-37262602
13	JUND	chr19:37262564-37262764	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr19:37262503-37262749	GM12878	blood:	n/a	n/a
15	NFIC	chr19:37262433-37262858	SK-N-SH	brain:	n/a	n/a
16	E2F4	chr19:37262374-37262775	GM12878	blood:	n/a	n/a
17	CEBPD	chr19:37262548-37262975	K562	blood:	n/a	n/a
18	POLR2A	chr19:37262170-37264080	K562	blood:	n/a	n/a
19	POLR2A	chr19:37262025-37264230	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:37262417-37262888	HUVEC	blood vessel:	n/a	n/a
21	TBL1XR1	chr19:37262450-37262913	K562	blood:	n/a	n/a
22	REST	chr19:37262546-37262842	K562	blood:	n/a	n/a
23	FOXM1	chr19:37262437-37262788	MCF-7	breast:	n/a	n/a
24	CBX3	chr19:37262090-37262932	K562	blood:	n/a	n/a
25	SRF	chr19:37262437-37262706	HepG2	liver:	n/a	chr19:37262584-37262602
26	POLR2A	chr19:37262123-37263107	GM12878	blood:	n/a	n/a
27	IRF1	chr19:37262528-37262992	K562	blood:	n/a	n/a
28	POLR2A	chr19:37262426-37263821	K562	blood:	n/a	n/a
29	SRF	chr19:37262449-37262693	GM12878	blood:	n/a	chr19:37262584-37262602
30	CHD2	chr19:37262031-37264331	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
31	POU2F2	chr19:37262054-37262909	GM12878	blood:	n/a	n/a
32	ATF2	chr19:37262497-37262875	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:37262479-37262928	GM12891	blood:	n/a	n/a
34	POLR2A	chr19:37262458-37264527	HL-60	blood:	n/a	n/a
35	RCOR1	chr19:37262080-37263127	IMR90	lung:	n/a	n/a
36	ATF2	chr19:37262450-37262871	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr19:37262496-37262997	K562	blood:	n/a	n/a
38	PAX5	chr19:37262186-37262736	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:37262007-37262926	GM12892	blood:	n/a	n/a
40	SRF	chr19:37262333-37262826	H1-hESC	embryonic stem cell:	n/a	chr19:37262584-37262602
41	POLR2A	chr19:37262051-37264279	PANC-1	pancreas:	n/a	n/a
42	STAT5A	chr19:37262481-37262909	GM12878	blood:	n/a	n/a
43	SIN3A	chr19:37262518-37264597	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr19:37262175-37264449	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr19:37262554-37262924	K562	blood:	n/a	n/a
46	POLR2A	chr19:37262498-37262976	HUVEC	blood vessel:	n/a	n/a
47	FOXM1	chr19:37262154-37262878	GM12878	blood:	n/a	n/a
48	SRF	chr19:37262490-37262721	K562	blood:	n/a	chr19:37262584-37262602
49	POLR2A	chr19:37261889-37263903	GM12878	blood:	n/a	n/a
50	TEAD4	chr19:37262437-37263241	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
2	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
3	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
4	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267260	TF binding region
ENSG00000267363	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000142065	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
16	nsv963041	chr19:37252526-37264177	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
17	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	esv1827511	chr19:37261867-37283594	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37260600-37265200	ZNF genes & repeats	A549	lung
2	chr19:37261600-37262600	Active TSS	Fetal Brain Female	brain
3	chr19:37261600-37264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:37261600-37264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:37261800-37262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:37261800-37262600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr19:37261800-37262600	Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:37261800-37262600	Active TSS	Fetal Muscle Trunk	muscle
9	chr19:37261800-37262600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr19:37261800-37262800	Active TSS	Brain Cingulate Gyrus	brain
11	chr19:37261800-37262800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:37261800-37262800	Active TSS	Brain Substantia Nigra	brain
13	chr19:37261800-37262800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr19:37261800-37262800	Active TSS	Rectal Smooth Muscle	rectum
15	chr19:37261800-37262800	Active TSS	NHEK	skin
16	chr19:37261800-37263000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:37261800-37263600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:37261800-37264200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:37261800-37264200	Active TSS	Fetal Kidney	kidney
20	chr19:37261800-37264200	Active TSS	Left Ventricle	heart
21	chr19:37261800-37264200	Active TSS	Ovary	ovary
22	chr19:37261800-37264200	Active TSS	Right Atrium	heart
23	chr19:37261800-37264200	Active TSS	Right Ventricle	heart
24	chr19:37261800-37264200	Active TSS	NH-A	brain
25	chr19:37261800-37264200	Active TSS	NHDF-Ad	bronchial
26	chr19:37261800-37264400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:37261800-37264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:37261800-37264600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:37261800-37264600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:37261800-37264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:37261800-37264600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:37261800-37264600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:37261800-37264600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:37261800-37264600	ZNF genes & repeats	Fetal Brain Male	brain
35	chr19:37261800-37264600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:37261800-37264600	Active TSS	HSMM	muscle
37	chr19:37261800-37264600	Active TSS	HSMMtube	muscle
38	chr19:37261800-37264600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr19:37261800-37264600	Active TSS	NHLF	lung
40	chr19:37261800-37265000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:37261800-37265600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:37262000-37262600	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:37262000-37262600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:37262000-37262600	Active TSS	Colonic Mucosa	Colon
45	chr19:37262000-37262600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:37262000-37262600	Active TSS	Pancreas	Pancrea
47	chr19:37262000-37262600	Active TSS	Thymus	Thymus
48	chr19:37262000-37262600	ZNF genes & repeats	HMEC	breast
49	chr19:37262000-37262800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:37262000-37262800	Enhancers	Primary T cells fromperipheralblood	blood

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