Variant report

Variant	rs557548238
Chromosome Location	chr19:37262721-37262722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 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	ZMIZ1	chr19:37262598-37262887	K562	blood:	n/a	n/a
5	RCOR1	chr19:37262584-37263270	K562	blood:	n/a	n/a
6	HEY1	chr19:37262262-37263087	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:37262124-37263091	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr19:37262382-37264272	K562	blood:	n/a	n/a
9	MYBL2	chr19:37262392-37262870	HepG2	liver:	n/a	n/a
10	MXI1	chr19:37262372-37264557	IMR90	lung:	n/a	n/a
11	EP300	chr19:37262593-37262974	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr19:37262398-37263006	HUVEC	blood vessel:	n/a	n/a
13	CEBPB	chr19:37262492-37262829	IMR90	lung:	n/a	n/a
14	JUND	chr19:37262564-37262764	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr19:37262503-37262749	GM12878	blood:	n/a	n/a
16	NFIC	chr19:37262433-37262858	SK-N-SH	brain:	n/a	n/a
17	ARID3A	chr19:37262657-37262874	K562	blood:	n/a	n/a
18	MAFF	chr19:37262605-37262789	K562	blood:	n/a	n/a
19	E2F4	chr19:37262374-37262775	GM12878	blood:	n/a	n/a
20	CEBPD	chr19:37262548-37262975	K562	blood:	n/a	n/a
21	POLR2A	chr19:37262170-37264080	K562	blood:	n/a	n/a
22	POLR2A	chr19:37262025-37264230	GM12892	blood:	n/a	n/a
23	POLR2A	chr19:37262417-37262888	HUVEC	blood vessel:	n/a	n/a
24	TBL1XR1	chr19:37262450-37262913	K562	blood:	n/a	n/a
25	REST	chr19:37262546-37262842	K562	blood:	n/a	n/a
26	FOXM1	chr19:37262437-37262788	MCF-7	breast:	n/a	n/a
27	CHD1	chr19:37262581-37264423	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
28	CBX3	chr19:37262090-37262932	K562	blood:	n/a	n/a
29	POLR2A	chr19:37262123-37263107	GM12878	blood:	n/a	n/a
30	IRF1	chr19:37262528-37262992	K562	blood:	n/a	n/a
31	POLR2A	chr19:37262426-37263821	K562	blood:	n/a	n/a
32	CHD2	chr19:37262031-37264331	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
33	POU2F2	chr19:37262054-37262909	GM12878	blood:	n/a	n/a
34	ATF2	chr19:37262497-37262875	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:37262479-37262928	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:37262458-37264527	HL-60	blood:	n/a	n/a
37	RCOR1	chr19:37262080-37263127	IMR90	lung:	n/a	n/a
38	ATF2	chr19:37262450-37262871	H1-hESC	embryonic stem cell:	n/a	n/a
39	EP300	chr19:37262496-37262997	K562	blood:	n/a	n/a
40	PAX5	chr19:37262186-37262736	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:37262007-37262926	GM12892	blood:	n/a	n/a
42	SRF	chr19:37262333-37262826	H1-hESC	embryonic stem cell:	n/a	chr19:37262584-37262602
43	POLR2A	chr19:37262051-37264279	PANC-1	pancreas:	n/a	n/a
44	STAT5A	chr19:37262481-37262909	GM12878	blood:	n/a	n/a
45	SIN3A	chr19:37262518-37264597	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr19:37262175-37264449	H1-hESC	embryonic stem cell:	n/a	n/a
47	ELF1	chr19:37262554-37262924	K562	blood:	n/a	n/a
48	POLR2A	chr19:37262498-37262976	HUVEC	blood vessel:	n/a	n/a
49	FOXM1	chr19:37262154-37262878	GM12878	blood:	n/a	n/a
50	SRF	chr19:37262490-37262721	K562	blood:	n/a	chr19:37262584-37262602

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37063854..37065418-chr19:37262714..37265586,2	K562	blood:
2	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
3	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
4	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
5	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267260	TF binding region
ENSG00000142065	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000267363	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000267309	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:125 , 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	chr19:37261600-37264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37261600-37264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:37261800-37262800	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:37261800-37262800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:37261800-37262800	Active TSS	Brain Substantia Nigra	brain
7	chr19:37261800-37262800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:37261800-37262800	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:37261800-37262800	Active TSS	NHEK	skin
10	chr19:37261800-37263000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:37261800-37263600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:37261800-37264200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:37261800-37264200	Active TSS	Fetal Kidney	kidney
14	chr19:37261800-37264200	Active TSS	Left Ventricle	heart
15	chr19:37261800-37264200	Active TSS	Ovary	ovary
16	chr19:37261800-37264200	Active TSS	Right Atrium	heart
17	chr19:37261800-37264200	Active TSS	Right Ventricle	heart
18	chr19:37261800-37264200	Active TSS	NH-A	brain
19	chr19:37261800-37264200	Active TSS	NHDF-Ad	bronchial
20	chr19:37261800-37264400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:37261800-37264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:37261800-37264600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr19:37261800-37264600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:37261800-37264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:37261800-37264600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:37261800-37264600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:37261800-37264600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37261800-37264600	ZNF genes & repeats	Fetal Brain Male	brain
29	chr19:37261800-37264600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr19:37261800-37264600	Active TSS	HSMM	muscle
31	chr19:37261800-37264600	Active TSS	HSMMtube	muscle
32	chr19:37261800-37264600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr19:37261800-37264600	Active TSS	NHLF	lung
34	chr19:37261800-37265000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:37261800-37265600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr19:37262000-37262800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr19:37262000-37262800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr19:37262000-37262800	Active TSS	Brain Angular Gyrus	brain
39	chr19:37262000-37263000	Enhancers	Spleen	Spleen
40	chr19:37262000-37263200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr19:37262000-37263400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr19:37262000-37263400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr19:37262000-37263400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr19:37262000-37263400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr19:37262000-37263600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr19:37262000-37264200	Active TSS	Esophagus	oesophagus
47	chr19:37262000-37264200	Active TSS	Fetal Lung	lung
48	chr19:37262000-37264200	Active TSS	Psoas Muscle	Psoas
49	chr19:37262000-37264400	Active TSS	Aorta	Aorta
50	chr19:37262000-37264400	Active TSS	Placenta Amnion	Placenta Amnion

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