Variant report

Variant	rs540217642
Chromosome Location	chr19:40696722-40696723
allele	C/T
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	POLR2A	chr19:40696641-40697721	A549	lung:	n/a	n/a
2	ATF2	chr19:40696306-40696953	GM12878	blood:	n/a	n/a
3	FOXM1	chr19:40696296-40697034	GM12878	blood:	n/a	n/a
4	BCLAF1	chr19:40696348-40696956	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:40696410-40697357	U87	brain:	n/a	n/a
6	MYC	chr19:40696716-40696741	K562	blood:	n/a	n/a
7	POLR2A	chr19:40696674-40697122	HepG2	liver:	n/a	n/a
8	FOXA2	chr19:40696648-40697608	A549	lung:	n/a	n/a
9	TBL1XR1	chr19:40696474-40697049	GM12878	blood:	n/a	n/a
10	FOS	chr19:40696398-40696756	MCF10A-Er-Src	breast:	n/a	chr19:40696571-40696582
11	E2F4	chr19:40696428-40697047	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:40696261-40697107	GM12892	blood:	n/a	n/a
13	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
14	POLR2A	chr19:40696657-40698101	HUVEC	blood vessel:	n/a	n/a
15	HEY1	chr19:40696559-40697473	HepG2	liver:	n/a	chr19:40697309-40697324 chr19:40696716-40696725
16	EBF1	chr19:40696571-40697003	GM12878	blood:	n/a	chr19:40696770-40696779 chr19:40696768-40696779 chr19:40696770-40696779 chr19:40696768-40696781
17	YY1	chr19:40696412-40697431	A549	lung:	n/a	chr19:40697314-40697325 chr19:40697316-40697325 chr19:40697319-40697333 chr19:40697313-40697322 chr19:40697319-40697328 chr19:40697233-40697242 chr19:40697313-40697327
18	FOSL2	chr19:40696382-40696759	A549	lung:	n/a	n/a
19	POLR2A	chr19:40696518-40697424	SK-N-SH	brain:	n/a	n/a
20	RCOR1	chr19:40696367-40697254	K562	blood:	n/a	n/a
21	POLR2A	chr19:40696537-40696899	GM12891	blood:	n/a	n/a
22	RCOR1	chr19:40696711-40697041	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:40696703-40697464	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr19:40696423-40697440	Hela-S3	cervix:	n/a	n/a
25	MYC	chr19:40696394-40697423	K562	blood:	n/a	n/a
26	SIN3A	chr19:40696667-40698071	H1-hESC	embryonic stem cell:	n/a	chr19:40696898-40696907 chr19:40696890-40696901 chr19:40697557-40697570
27	USF1	chr19:40696439-40696773	SK-N-SH_RA	brain:	n/a	n/a
28	REST	chr19:40696167-40699848	PANC-1	pancreas:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
29	PML	chr19:40696229-40697458	GM12878	blood:	n/a	chr19:40696726-40696734
30	SIN3AK20	chr19:40695285-40697463	PANC-1	pancreas:	n/a	n/a
31	MAX	chr19:40696432-40697160	NB4	blood:	n/a	n/a
32	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
33	MYC	chr19:40696474-40697460	NB4	blood:	n/a	n/a
34	POLR2A	chr19:40696711-40697466	A549	lung:	n/a	n/a
35	SRF	chr19:40696305-40696760	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr19:40696489-40696943	GM12878	blood:	n/a	chr19:40696857-40696873 chr19:40696888-40696904
37	EP300	chr19:40696451-40696786	GM12878	blood:	n/a	n/a
38	MYC	chr19:40696709-40696810	HepG2	liver:	n/a	n/a
39	YY1	chr19:40696357-40696957	GM12892	blood:	n/a	n/a
40	EP300	chr19:40696445-40697106	GM12878	blood:	n/a	chr19:40696857-40696873 chr19:40696888-40696904
41	USF1	chr19:40696398-40696975	A549	lung:	n/a	chr19:40696884-40696900
42	ETS1	chr19:40696383-40697437	A549	lung:	n/a	chr19:40696917-40696930 chr19:40697295-40697302 chr19:40697080-40697093 chr19:40696782-40696796 chr19:40697291-40697304 chr19:40697314-40697325 chr19:40697084-40697095 chr19:40697290-40697303 chr19:40696918-40696931
43	POLR2A	chr19:40696664-40698103	H1-neurons	neurons:	n/a	n/a
44	JUND	chr19:40696401-40696760	HepG2	liver:	n/a	chr19:40696571-40696582
45	MXI1	chr19:40696487-40697205	K562	blood:	n/a	n/a
46	CEBPB	chr19:40696420-40696984	Hela-S3	cervix:	n/a	n/a
47	YY1	chr19:40696417-40697435	GM12878	blood:	n/a	chr19:40697314-40697325 chr19:40697316-40697325 chr19:40697319-40697333 chr19:40697313-40697322 chr19:40697319-40697328 chr19:40697233-40697242 chr19:40697313-40697327
48	BCL3	chr19:40696378-40697420	A549	lung:	n/a	chr19:40697314-40697323 chr19:40697229-40697242 chr19:40697343-40697356 chr19:40697309-40697322 chr19:40697313-40697326 chr19:40697317-40697326 chr19:40697379-40697392 chr19:40697312-40697325
49	JUND	chr19:40696336-40697569	A549	lung:	n/a	chr19:40696571-40696582 chr19:40697375-40697384
50	CREB1	chr19:40696650-40698092	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40688006..40692388-chr19:40694622..40697525,4	K562	blood:
3	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
4	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
5	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:
6	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
7	chr19:40688598..40690270-chr19:40694622..40697425,2	K562	blood:
8	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000130758	Chromatin interaction
ENSG00000207631	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000221051	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
3	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv3426637	chr19:40696137-40698985	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3389051	chr19:40696662-40698860	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40695800-40698000	Active TSS	GM12878-XiMat	blood
2	chr19:40695800-40698600	Active TSS	Osteobl	bone
3	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain
5	chr19:40696200-40696800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:40696200-40696800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:40696200-40696800	Active TSS	Colonic Mucosa	Colon
8	chr19:40696200-40697000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:40696200-40697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
13	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
14	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
15	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:40696400-40696800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr19:40696400-40696800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr19:40696400-40696800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:40696400-40696800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr19:40696400-40696800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr19:40696400-40696800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:40696400-40696800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:40696400-40696800	Flanking Active TSS	A549	lung
25	chr19:40696400-40696800	Flanking Active TSS	Hela-S3	cervix
26	chr19:40696400-40696800	Flanking Active TSS	NHEK	skin
27	chr19:40696400-40697000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:40696400-40697000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:40696400-40697000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr19:40696400-40697000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:40696400-40697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:40696400-40697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:40696400-40697000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:40696400-40697000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr19:40696400-40697000	Flanking Active TSS	Dnd41	blood
36	chr19:40696400-40697000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:40696400-40697200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr19:40696400-40697200	Active TSS	Fetal Heart	heart
39	chr19:40696400-40697200	Flanking Active TSS	Placenta	Placenta
40	chr19:40696400-40697400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr19:40696400-40697800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:40696400-40697800	Active TSS	Liver	Liver
43	chr19:40696400-40697800	Active TSS	Right Ventricle	heart
44	chr19:40696400-40697800	Active TSS	Stomach Smooth Muscle	stomach
45	chr19:40696400-40698000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:40696400-40698000	Active TSS	Brain Cingulate Gyrus	brain
47	chr19:40696400-40698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:40696400-40698000	Active TSS	Duodenum Mucosa	Duodenum
49	chr19:40696400-40698000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr19:40696400-40698000	Active TSS	Fetal Muscle Leg	muscle

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