Variant report

Variant	rs544875736
Chromosome Location	chr19:40697336-40697337
allele	A/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	POLR2A	chr19:40696641-40697721	A549	lung:	n/a	n/a
2	POLR2A	chr19:40696410-40697357	U87	brain:	n/a	n/a
3	FOXA2	chr19:40696648-40697608	A549	lung:	n/a	n/a
4	POLR2A	chr19:40697111-40697487	ECC-1	luminal epithelium:	n/a	n/a
5	SIX5	chr19:40696795-40697450	K562	blood:	n/a	chr19:40697292-40697301 chr19:40696919-40696928 chr19:40697200-40697216 chr19:40697294-40697303 chr19:40696921-40696930
6	CREB1	chr19:40697047-40697437	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:40696734-40697537	HEK293	kidney:	n/a	n/a
8	ELF1	chr19:40696759-40697422	K562	blood:	n/a	chr19:40697316-40697325 chr19:40697313-40697322 chr19:40697158-40697170
9	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
10	POLR2A	chr19:40696657-40698101	HUVEC	blood vessel:	n/a	n/a
11	ELK1	chr19:40697214-40697403	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr19:40696559-40697473	HepG2	liver:	n/a	chr19:40697309-40697324 chr19:40696716-40696725
13	MYC	chr19:40697305-40697393	HepG2	liver:	n/a	n/a
14	SRF	chr19:40697102-40697530	ECC-1	luminal epithelium:	n/a	n/a
15	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
16	JUND	chr19:40697235-40697411	H1-hESC	embryonic stem cell:	n/a	chr19:40697375-40697384
17	POLR2A	chr19:40696518-40697424	SK-N-SH	brain:	n/a	n/a
18	ATF3	chr19:40697053-40697456	GM12878	blood:	n/a	chr19:40697328-40697348
19	POLR2A	chr19:40696703-40697464	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr19:40696423-40697440	Hela-S3	cervix:	n/a	n/a
21	MYC	chr19:40696394-40697423	K562	blood:	n/a	n/a
22	SIN3A	chr19:40696667-40698071	H1-hESC	embryonic stem cell:	n/a	chr19:40696898-40696907 chr19:40696890-40696901 chr19:40697557-40697570
23	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
24	SRF	chr19:40697254-40697405	GM12878	blood:	n/a	n/a
25	PML	chr19:40696229-40697458	GM12878	blood:	n/a	chr19:40696726-40696734
26	SIN3AK20	chr19:40695285-40697463	PANC-1	pancreas:	n/a	n/a
27	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
28	MYC	chr19:40696474-40697460	NB4	blood:	n/a	n/a
29	POLR2A	chr19:40696711-40697466	A549	lung:	n/a	n/a
30	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
31	POLR2A	chr19:40696664-40698103	H1-neurons	neurons:	n/a	n/a
32	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
33	GABPA	chr19:40696749-40697437	K562	blood:	n/a	n/a
34	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
35	JUND	chr19:40696336-40697569	A549	lung:	n/a	chr19:40696571-40696582 chr19:40697375-40697384
36	CREB1	chr19:40696999-40697599	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr19:40696650-40698092	A549	lung:	n/a	n/a
38	SIN3A	chr19:40696494-40697390	GM12878	blood:	n/a	chr19:40696898-40696907 chr19:40696890-40696901
39	ELF1	chr19:40697187-40697472	K562	blood:	n/a	chr19:40697316-40697325 chr19:40697313-40697322
40	REST	chr19:40696461-40698316	H1-neurons	neurons:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
41	POLR2A	chr19:40696474-40698011	GM15510	blood:	n/a	n/a
42	POLR2A	chr19:40696312-40698035	GM12892	blood:	n/a	n/a
43	CTCF	chr19:40697300-40697350	GM12878	blood:	n/a	n/a
44	HCFC1	chr19:40696216-40698059	Hela-S3	cervix:	n/a	n/a
45	SIX5	chr19:40696694-40697507	GM12878	blood:	n/a	chr19:40697292-40697301 chr19:40696919-40696928 chr19:40697200-40697216 chr19:40697294-40697303 chr19:40696921-40696930
46	GATA3	chr19:40696377-40697507	A549	lung:	n/a	n/a
47	SREBP1	chr19:40696359-40697496	GM12878	blood:	n/a	n/a
48	SP1	chr19:40696314-40697476	A549	lung:	n/a	chr19:40697372-40697386
49	EP300	chr19:40696382-40697449	A549	lung:	n/a	chr19:40696857-40696873 chr19:40697364-40697380 chr19:40697265-40697281 chr19:40696888-40696904 chr19:40697318-40697327 chr19:40697315-40697324
50	ZBTB7A	chr19:40696687-40698210	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111367593..111368509-chr19:40696817..40697667,2	HCT-116	colon:
2	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
3	chr19:40688006..40692388-chr19:40694622..40697525,4	K562	blood:
4	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
5	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
6	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
7	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
8	chr19:40688598..40690270-chr19:40694622..40697425,2	K562	blood:
9	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000160410	Chromatin interaction
ENSG00000207631	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000174521	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000221051	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	esv3427944	chr19:40696737-40699285	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 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	chr19:40696200-40697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
9	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
10	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
11	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:40696400-40697400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr19:40696400-40697800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:40696400-40697800	Active TSS	Liver	Liver
16	chr19:40696400-40697800	Active TSS	Right Ventricle	heart
17	chr19:40696400-40697800	Active TSS	Stomach Smooth Muscle	stomach
18	chr19:40696400-40698000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:40696400-40698000	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:40696400-40698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:40696400-40698000	Active TSS	Duodenum Mucosa	Duodenum
22	chr19:40696400-40698000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:40696400-40698000	Active TSS	Fetal Muscle Leg	muscle
24	chr19:40696400-40698000	Active TSS	Rectal Smooth Muscle	rectum
25	chr19:40696400-40698000	Active TSS	NH-A	brain
26	chr19:40696400-40698200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:40696400-40698200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr19:40696400-40698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:40696400-40698200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr19:40696400-40698200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr19:40696400-40698200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:40696400-40698200	Active TSS	Brain Substantia Nigra	brain
33	chr19:40696400-40698200	Active TSS	Ovary	ovary
34	chr19:40696400-40698200	Active TSS	Right Atrium	heart
35	chr19:40696400-40698200	Active TSS	HepG2	liver
36	chr19:40696400-40698200	Active TSS	NHDF-Ad	bronchial
37	chr19:40696400-40698400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:40696400-40698400	Active TSS	K562	blood
39	chr19:40696400-40698600	Active TSS	Colon Smooth Muscle	Colon
40	chr19:40696400-40698600	Active TSS	HSMMtube	muscle
41	chr19:40696400-40698800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:40696400-40698800	Active TSS	HSMM	muscle
43	chr19:40696600-40698000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:40696600-40698000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:40696600-40698000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:40696600-40698000	Active TSS	Esophagus	oesophagus
47	chr19:40696600-40698000	Active TSS	Fetal Kidney	kidney
48	chr19:40696600-40698000	Active TSS	Lung	lung
49	chr19:40696600-40698000	Active TSS	Pancreas	Pancrea
50	chr19:40696600-40698000	Active TSS	Sigmoid Colon	Sigmoid Colon

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