Variant report

Variant	rs11882311
Chromosome Location	chr19:53194344-53194345
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	TEAD4	chr19:53193660-53194422	ECC-1	luminal epithelium:	n/a	n/a
2	TAF1	chr19:53193341-53194369	K562	blood:	n/a	n/a
3	POLR2A	chr19:53193470-53194369	Raji	blood:	n/a	n/a
4	POLR2A	chr19:53193436-53194350	ECC-1	luminal epithelium:	n/a	n/a
5	SP1	chr19:53193554-53194439	H1-hESC	embryonic stem cell:	n/a	chr19:53193862-53193874 chr19:53193795-53193804 chr19:53193873-53193885 chr19:53193794-53193806 chr19:53193859-53193873 chr19:53193863-53193873 chr19:53193791-53193805 chr19:53193862-53193874 chr19:53193795-53193805 chr19:53193875-53193884 chr19:53193795-53193805 chr19:53193796-53193805 chr19:53193864-53193873 chr19:53193863-53193872 chr19:53193873-53193885 chr19:53193794-53193806
6	POLR2A	chr19:53193492-53194353	HUVEC	blood vessel:	n/a	n/a
7	NR2F2	chr19:53193974-53194433	K562	blood:	n/a	n/a
8	TEAD4	chr19:53193513-53194482	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr19:53193480-53194487	ECC-1	luminal epithelium:	n/a	chr19:53193975-53193983
10	MAZ	chr19:53193353-53194360	Hela-S3	cervix:	n/a	chr19:53193815-53193825 chr19:53193863-53193873 chr19:53193795-53193805
11	E2F6	chr19:53194046-53194385	K562	blood:	n/a	chr19:53194247-53194258
12	RCOR1	chr19:53193301-53194414	K562	blood:	n/a	n/a
13	MXI1	chr19:53193140-53194530	IMR90	lung:	n/a	n/a
14	POLR2A	chr19:53193050-53194453	K562	blood:	n/a	n/a
15	MAX	chr19:53193091-53194406	MCF-7	breast:	n/a	chr19:53193815-53193825 chr19:53193863-53193873 chr19:53193795-53193805
16	SMC3	chr19:53193330-53194374	Hela-S3	cervix:	n/a	chr19:53193856-53193870
17	POLR2A	chr19:53192841-53194388	Hela-S3	cervix:	n/a	n/a
18	E2F6	chr19:53194052-53194368	K562	blood:	n/a	chr19:53194247-53194258
19	POLR2A	chr19:53193358-53194393	HUVEC	blood vessel:	n/a	n/a
20	TBL1XR1	chr19:53193414-53194654	K562	blood:	n/a	n/a
21	ZMIZ1	chr19:53193481-53194413	K562	blood:	n/a	n/a
22	POLR2A	chr19:53193408-53194358	PANC-1	pancreas:	n/a	n/a
23	HEY1	chr19:53193442-53194470	K562	blood:	n/a	n/a
24	BHLHE40	chr19:53193162-53194353	K562	blood:	n/a	chr19:53193865-53193881
25	RCOR1	chr19:53193471-53194419	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr19:53193513-53194817	K562	blood:	n/a	n/a
27	POLR2A	chr19:53193456-53194371	NB4	blood:	n/a	n/a
28	HA-E2F1	chr19:53193117-53194541	MCF-7	breast:	n/a	chr19:53193817-53193826 chr19:53193799-53193809 chr19:53193822-53193833 chr19:53193404-53193416
29	HCFC1	chr19:53193302-53194444	K562	blood:	n/a	n/a
30	PML	chr19:53193489-53194453	K562	blood:	n/a	n/a
31	MXI1	chr19:53193172-53194539	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:53192465-53194427	GM12878	blood:	n/a	n/a
33	NFIC	chr19:53193564-53194410	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr19:53193302-53194357	GM18526	blood:	n/a	n/a
35	CTCF	chr19:53193519-53194698	K562	blood:	n/a	chr19:53193857-53193870 chr19:53193854-53193872
36	MAX	chr19:53193094-53194496	ECC-1	luminal epithelium:	n/a	chr19:53193815-53193825 chr19:53193863-53193873 chr19:53193795-53193805
37	POLR2A	chr19:53193109-53194462	K562	blood:	n/a	n/a
38	MAX	chr19:53192974-53194694	K562	blood:	n/a	chr19:53193815-53193825 chr19:53193863-53193873 chr19:53193795-53193805
39	POLR2A	chr19:53194052-53194378	GM12878	blood:	n/a	n/a
40	TEAD4	chr19:53193106-53194517	K562	blood:	n/a	n/a
41	TAF1	chr19:53193530-53194396	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:53193107-53194351	MCF-7	breast:	n/a	n/a
43	TBP	chr19:53193317-53194427	K562	blood:	n/a	n/a
44	ATF1	chr19:53193490-53194355	K562	blood:	n/a	n/a
45	MAFK	chr19:53194153-53194529	K562	blood:	n/a	n/a
46	E2F6	chr19:53192958-53194446	H1-hESC	embryonic stem cell:	n/a	chr19:53194247-53194258 chr19:53193817-53193826 chr19:53193799-53193809 chr19:53193404-53193416
47	POLR2A	chr19:53193477-53194396	K562	blood:	n/a	n/a
48	TAL1	chr19:53193582-53194426	K562	blood:	n/a	n/a
49	MAX	chr19:53193171-53194363	Hela-S3	cervix:	n/a	chr19:53193815-53193825 chr19:53193863-53193873 chr19:53193795-53193805
50	ELF1	chr19:53193584-53194511	K562	blood:	n/a	chr19:53193860-53193872 chr19:53193867-53193879 chr19:53193776-53193788

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
2	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:

Variant related genes	Relation type
ZNF83	TF binding region
ENSG00000198538	Chromatin interaction
ENSG00000204604	Chromatin interaction
ENSG00000167766	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11879684	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12971372	1.00[ASN][1000 genomes]
rs12977988	1.00[ASN][1000 genomes]
rs12985487	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12986137	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28570374	1.00[ASN][1000 genomes]
rs329948	1.00[CHB][hapmap]
rs34106830	1.00[ASN][1000 genomes]
rs34529833	1.00[ASN][1000 genomes]
rs34724169	1.00[ASN][1000 genomes]
rs34747259	1.00[ASN][1000 genomes]
rs34942135	1.00[ASN][1000 genomes]
rs35888888	1.00[ASN][1000 genomes]
rs4401146	1.00[CHB][hapmap]
rs557496	1.00[CHB][hapmap]
rs58494379	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61545816	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71358884	1.00[ASN][1000 genomes]
rs73578236	1.00[ASN][1000 genomes]
rs73578252	1.00[ASN][1000 genomes]
rs73590059	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73934854	1.00[ASN][1000 genomes]
rs8104197	1.00[ASN][1000 genomes]
rs811920	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	30 gene(s)	inside rSNPs	diseases
12	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
15	nsv458744	chr19:53120559-53236331	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
16	nsv580028	chr19:53120559-53236331	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	esv3489404	chr19:53121944-53391394	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
18	esv3489405	chr19:53121944-53391394	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
19	nsv961238	chr19:53144650-53221094	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
21	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv912319	chr19:53152923-53241107	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv912320	chr19:53164172-53243026	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
24	nsv912321	chr19:53186836-53451291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
25	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
26	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
28	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53191600-53194600	Active TSS	Fetal Brain Female	brain
2	chr19:53192000-53194600	Active TSS	GM12878-XiMat	blood
3	chr19:53192000-53194800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:53192000-53194800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:53192000-53194800	Active TSS	Brain Anterior Caudate	brain
6	chr19:53192200-53194400	Active TSS	Fetal Kidney	kidney
7	chr19:53192200-53194600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:53192400-53194400	Active TSS	Brain Angular Gyrus	brain
9	chr19:53192400-53194400	Active TSS	Ovary	ovary
10	chr19:53192400-53194600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:53192400-53194600	Active TSS	Fetal Thymus	thymus
12	chr19:53192400-53194800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:53192400-53194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:53192400-53194800	Active TSS	Aorta	Aorta
15	chr19:53192400-53194800	Active TSS	Right Atrium	heart
16	chr19:53192400-53194800	Active TSS	HSMM	muscle
17	chr19:53192600-53194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:53192600-53194600	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:53192600-53195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr19:53192800-53194600	Active TSS	Fetal Intestine Small	intestine
21	chr19:53192800-53194600	Active TSS	Fetal Lung	lung
22	chr19:53192800-53194800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:53192800-53194800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr19:53192800-53194800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:53192800-53195000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:53193000-53194400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:53193000-53194400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:53193000-53194400	Active TSS	Brain Hippocampus Middle	brain
29	chr19:53193000-53194400	Active TSS	Fetal Intestine Large	intestine
30	chr19:53193000-53194400	Active TSS	Gastric	stomach
31	chr19:53193000-53194400	Active TSS	Left Ventricle	heart
32	chr19:53193000-53194400	Active TSS	Small Intestine	intestine
33	chr19:53193000-53194600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:53193000-53194600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr19:53193000-53194600	Active TSS	Liver	Liver
36	chr19:53193000-53194600	Active TSS	Brain Substantia Nigra	brain
37	chr19:53193000-53194600	Active TSS	Right Ventricle	heart
38	chr19:53193000-53194600	Active TSS	HSMMtube	muscle
39	chr19:53193000-53194800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:53193000-53194800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:53193000-53194800	Active TSS	Psoas Muscle	Psoas
42	chr19:53193200-53194400	Active TSS	Fetal Heart	heart
43	chr19:53193200-53194600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr19:53193200-53194600	Active TSS	Stomach Mucosa	stomach
45	chr19:53193200-53194600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr19:53193400-53194600	Active TSS	Colonic Mucosa	Colon
47	chr19:53193400-53194800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr19:53193400-53194800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr19:53193600-53194800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:53193800-53194400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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