Variant report

Variant	rs544534136
Chromosome Location	chr19:40696486-40696487
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	ATF2	chr19:40696306-40696953	GM12878	blood:	n/a	n/a
2	FOXM1	chr19:40696296-40697034	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:40696402-40696486	MCF-7	breast:	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	TBL1XR1	chr19:40696474-40697049	GM12878	blood:	n/a	n/a
7	FOS	chr19:40696398-40696756	MCF10A-Er-Src	breast:	n/a	chr19:40696571-40696582
8	E2F4	chr19:40696428-40697047	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:40696261-40697107	GM12892	blood:	n/a	n/a
10	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
11	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
12	FOSL2	chr19:40696382-40696759	A549	lung:	n/a	n/a
13	RCOR1	chr19:40696367-40697254	K562	blood:	n/a	n/a
14	SRF	chr19:40696398-40696622	GM12878	blood:	n/a	n/a
15	MAX	chr19:40696423-40697440	Hela-S3	cervix:	n/a	n/a
16	MYC	chr19:40696394-40697423	K562	blood:	n/a	n/a
17	USF1	chr19:40696439-40696773	SK-N-SH_RA	brain:	n/a	n/a
18	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
19	PML	chr19:40696229-40697458	GM12878	blood:	n/a	chr19:40696726-40696734
20	SIN3AK20	chr19:40695285-40697463	PANC-1	pancreas:	n/a	n/a
21	MAX	chr19:40696432-40697160	NB4	blood:	n/a	n/a
22	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
23	MYC	chr19:40696474-40697460	NB4	blood:	n/a	n/a
24	RPC155	chr19:40695883-40696687	Hela-S3	cervix:	n/a	n/a
25	SRF	chr19:40696305-40696760	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr19:40696451-40696786	GM12878	blood:	n/a	n/a
27	YY1	chr19:40696357-40696957	GM12892	blood:	n/a	n/a
28	EP300	chr19:40696445-40697106	GM12878	blood:	n/a	chr19:40696857-40696873 chr19:40696888-40696904
29	USF1	chr19:40696398-40696975	A549	lung:	n/a	chr19:40696884-40696900
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	JUND	chr19:40696401-40696760	HepG2	liver:	n/a	chr19:40696571-40696582
32	CEBPB	chr19:40696420-40696984	Hela-S3	cervix:	n/a	n/a
33	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
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	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
37	POLR2A	chr19:40696474-40698011	GM15510	blood:	n/a	n/a
38	POLR2A	chr19:40696312-40698035	GM12892	blood:	n/a	n/a
39	REST	chr19:40696435-40697335	A549	lung:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697230-40697243
40	HCFC1	chr19:40696216-40698059	Hela-S3	cervix:	n/a	n/a
41	GATA3	chr19:40696377-40697507	A549	lung:	n/a	n/a
42	SREBP1	chr19:40696359-40697496	GM12878	blood:	n/a	n/a
43	SP1	chr19:40696314-40697476	A549	lung:	n/a	chr19:40697372-40697386
44	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
45	TAF1	chr19:40696384-40696975	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:40696292-40697215	GM12878	blood:	n/a	n/a
47	GABPA	chr19:40696441-40697080	A549	lung:	n/a	n/a
48	NFIC	chr19:40696237-40696877	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:40696345-40696996	GM12892	blood:	n/a	n/a
50	MAX	chr19:40696455-40697259	HepG2	liver:	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	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
4	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:
5	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
6	chr19:40688598..40690270-chr19:40694622..40697425,2	K562	blood:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40695600-40696600	Enhancers	Fetal Brain Male	brain
2	chr19:40695800-40698000	Active TSS	GM12878-XiMat	blood
3	chr19:40695800-40698600	Active TSS	Osteobl	bone
4	chr19:40696000-40696600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain
7	chr19:40696200-40696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:40696200-40696600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:40696200-40696600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:40696200-40696800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:40696200-40696800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:40696200-40696800	Active TSS	Colonic Mucosa	Colon
13	chr19:40696200-40697000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr19:40696200-40697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
18	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
19	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
20	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:40696400-40696600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr19:40696400-40696600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:40696400-40696600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:40696400-40696600	Enhancers	Primary hematopoietic stem cells	blood
26	chr19:40696400-40696600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:40696400-40696600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:40696400-40696600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr19:40696400-40696600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:40696400-40696600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr19:40696400-40696600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:40696400-40696600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:40696400-40696600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:40696400-40696600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:40696400-40696600	Active TSS	Fetal Brain Female	brain
36	chr19:40696400-40696600	Enhancers	Fetal Intestine Large	intestine
37	chr19:40696400-40696600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:40696400-40696600	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr19:40696400-40696600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr19:40696400-40696600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr19:40696400-40696600	Enhancers	Stomach Mucosa	stomach
42	chr19:40696400-40696600	Bivalent/Poised TSS	Thymus	Thymus
43	chr19:40696400-40696600	Active TSS	HMEC	breast
44	chr19:40696400-40696600	Active TSS	HUVEC	blood vessel
45	chr19:40696400-40696600	Active TSS	NHLF	lung
46	chr19:40696400-40696800	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr19:40696400-40696800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr19:40696400-40696800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr19:40696400-40696800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr19:40696400-40696800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links