Variant report

Variant	rs72978981
Chromosome Location	chr11:104839300-104839301
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:104839129-104839550	GM12878	blood:	n/a	n/a
2	EP300	chr11:104839242-104839446	HepG2	liver:	n/a	n/a
3	TBP	chr11:104839106-104840551	HepG2	liver:	n/a	n/a
4	ELF1	chr11:104839017-104839686	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:104839041-104839576	GM12878	blood:	n/a	n/a
6	TAF1	chr11:104839134-104839387	GM12891	blood:	n/a	n/a
7	BHLHE40	chr11:104838963-104839549	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:104839183-104839555	HepG2	liver:	n/a	n/a
9	SMC3	chr11:104837849-104839636	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:104838981-104839324	SK-N-SH	brain:	n/a	n/a
11	EP300	chr11:104838983-104839534	SK-N-SH	brain:	n/a	chr11:104839515-104839529 chr11:104839155-104839169 chr11:104839128-104839137
12	POLR2A	chr11:104839124-104839319	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:104839089-104839409	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:104838092-104839501	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr11:104838896-104839535	GM12878	blood:	n/a	chr11:104839515-104839529 chr11:104839155-104839169 chr11:104839128-104839137
16	POLR2A	chr11:104839098-104839437	GM12878	blood:	n/a	n/a
17	TAF1	chr11:104839030-104839459	GM12878	blood:	n/a	n/a
18	MAFK	chr11:104839223-104840096	HepG2	liver:	n/a	chr11:104839410-104839426
19	POLR2A	chr11:104839016-104839552	GM12892	blood:	n/a	n/a
20	EP300	chr11:104838951-104839603	Hela-S3	cervix:	n/a	chr11:104839515-104839529 chr11:104839581-104839595 chr11:104839155-104839169 chr11:104839128-104839137
21	CEBPB	chr11:104839264-104839441	HepG2	liver:	n/a	n/a
22	MYBL2	chr11:104839002-104839883	HepG2	liver:	n/a	n/a
23	MYC	chr11:104838992-104839538	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr11:104839036-104839627	HepG2	liver:	n/a	n/a
25	FOS	chr11:104839099-104839650	MCF10A-Er-Src	breast:	n/a	chr11:104839157-104839166
26	JUND	chr11:104839057-104839619	Hela-S3	cervix:	n/a	chr11:104839157-104839166
27	EBF1	chr11:104839278-104839375	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:104838965-104840618	HepG2	liver:	n/a	n/a
29	SPI1	chr11:104839245-104839578	HL-60	blood:	n/a	chr11:104839395-104839408 chr11:104839397-104839406
30	CHD2	chr11:104839219-104839396	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:104839141-104839595	SK-N-MC	brain:	n/a	n/a
32	STAT3	chr11:104838210-104839862	MCF10A-Er-Src	breast:	n/a	chr11:104839303-104839314
33	MXI1	chr11:104838961-104839535	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:104837883-104839591	MCF10A-Er-Src	breast:	n/a	n/a
35	CEBPB	chr11:104839019-104839634	HCT-116	colon:	n/a	n/a
36	GATA3	chr11:104839105-104839512	T-47D	breast:	n/a	chr11:104839157-104839167
37	TCF12	chr11:104838724-104839671	SK-N-SH	brain:	n/a	n/a
38	WRNIP1	chr11:104839099-104839559	GM12878	blood:	n/a	n/a
39	NFIC	chr11:104838936-104839439	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:104838997-104839544	HUVEC	blood vessel:	n/a	n/a
41	FOXA2	chr11:104839224-104839481	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:104838983-104839479	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:104839043-104839533	HCT-116	colon:	n/a	n/a
44	ELF1	chr11:104838960-104839720	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:104838909-104839643	HUVEC	blood vessel:	n/a	n/a
46	MXI1	chr11:104839130-104839478	Hela-S3	cervix:	n/a	n/a
47	SPI1	chr11:104839214-104839546	GM12891	blood:	n/a	chr11:104839395-104839408 chr11:104839397-104839406
48	PRDM1	chr11:104839153-104839463	Hela-S3	cervix:	n/a	chr11:104839302-104839316 chr11:104839301-104839316
49	POLR2A	chr11:104839093-104839515	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:104838961-104839577	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:104839281-104839331	AG09319	gingival:	n/a
2	chr11:104839281-104839331	SAEC	small airway:	n/a
3	chr11:104839281-104839331	U87	brain:	n/a
4	chr11:104839281-104839331	H1-hESC	embryonic stem cell:	embryo
5	chr11:104839281-104839331	ovcar-3	ovarian:	n/a
6	chr11:104839281-104839331	NH-A	brain:	n/a
7	chr11:104839281-104839331	HNPCEpiC	eye:	n/a
8	chr11:104839281-104839331	MCF10A-Er-Src	breast:	n/a
9	chr11:104839281-104839331	GM12892	blood:	n/a
10	chr11:104839281-104839331	K562	blood:	n/a
11	chr11:104839281-104839331	AoSMC	blood vessel:	n/a
12	chr11:104839281-104839331	HMEC	breast:	n/a
13	chr11:104839281-104839331	SKMC	muscle:	n/a
14	chr11:104839281-104839331	SK-N-SH_RA	brain:	n/a
15	chr11:104839281-104839331	A549	lung:	n/a
16	chr11:104839281-104839331	T-47D	breast:	n/a
17	chr11:104839281-104839331	HUVEC	blood vessel:	n/a
18	chr11:104839281-104839331	HCM	heart:	n/a
19	chr11:104839281-104839331	LNCaP	prostate:	n/a
20	chr11:104839281-104839331	HRE	kidney:	n/a
21	chr11:104839281-104839331	RPTEC	kidney:	n/a
22	chr11:104839281-104839331	HCF	heart:	n/a
23	chr11:104839281-104839331	HRCEpiC	kidney:	n/a
24	chr11:104839281-104839331	PANC-1	pancreas:	n/a
25	chr11:104839281-104839331	ECC-1	luminal epithelium:	n/a
26	chr11:104839281-104839331	ProgFib	skin:	n/a
27	chr11:104839281-104839331	AG10803	skin:	n/a
28	chr11:104839281-104839331	Hela-S3	cervix:	n/a
29	chr11:104839281-104839331	GM06990	blood:	n/a
30	chr11:104839281-104839331	NHDF-neo	bronchial:	n/a
31	chr11:104839281-104839331	HepG2	liver:	n/a
32	chr11:104839281-104839331	AG04449	skin:	fetal
33	chr11:104839281-104839331	MCF-7	breast:	n/a
34	chr11:104839281-104839331	BJ	skin:	n/a
35	chr11:104839281-104839331	IMR90	lung:	fetal
36	chr11:104839281-104839331	NT2-D1	testis:	n/a
37	chr11:104839281-104839331	AG04450	lung:	fetal
38	chr11:104839281-104839331	HEEpiC	esophagus:	n/a
39	chr11:104839281-104839331	Jurkat	blood:	n/a
40	chr11:104839281-104839331	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:104839281-104839331	Caco-2	colon:	n/a
42	chr11:104839281-104839331	Hepatocyte	liver:	n/a
43	chr11:104839281-104839331	AG09309	skin:	n/a
44	chr11:104839281-104839331	SK-N-SH	brain:	n/a
45	chr11:104839281-104839331	HCT-116	colon:	n/a
46	chr11:104839281-104839331	HEK293	kidney:	embryo
47	chr11:104839281-104839331	GM12878	blood:	n/a
48	chr11:104839281-104839331	HL-60	blood:	n/a
49	chr11:104839281-104839331	CMK	blood:	n/a
50	chr11:104839281-104839331	PFSK-1	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62420312..62421283-chr11:104838756..104839379,2	Hela-S3	cervix:
2	chr11:104838939..104839536-chr7:127228342..127228894,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CASP4	TF binding region
CASP4	CpG island
ENSG00000185085	Chromatin interaction
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1801319	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45504692	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45530635	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45569135	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55651735	0.94[EUR][1000 genomes]
rs55721600	0.94[EUR][1000 genomes]
rs55725142	0.94[EUR][1000 genomes]
rs55781362	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932228	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011093	0.94[EUR][1000 genomes]
rs56043157	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349036	0.94[EUR][1000 genomes]
rs57760571	0.94[EUR][1000 genomes]
rs59367529	0.94[EUR][1000 genomes]
rs59580775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59769457	0.94[EUR][1000 genomes]
rs7104993	0.94[EUR][1000 genomes]
rs7116603	0.94[EUR][1000 genomes]
rs7131099	0.94[EUR][1000 genomes]
rs72978960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978993	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978997	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978998	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7941702	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104836400-104839600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr11:104836600-104840400	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:104836800-104840200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:104837000-104839600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:104837000-104840000	Active TSS	Right Ventricle	heart
6	chr11:104837000-104840600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:104837200-104839800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:104837200-104840200	Active TSS	Psoas Muscle	Psoas
9	chr11:104837400-104839600	Active TSS	GM12878-XiMat	blood
10	chr11:104837400-104839800	Active TSS	NHLF	lung
11	chr11:104837400-104840400	Active TSS	Right Atrium	heart
12	chr11:104837400-104840600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:104837600-104839400	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr11:104837600-104839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr11:104837600-104839400	Active TSS	Hela-S3	cervix
16	chr11:104837600-104839400	Active TSS	NHEK	skin
17	chr11:104837600-104839600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:104837600-104839600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr11:104837600-104839600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:104837600-104839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:104837600-104839600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:104837600-104839600	Active TSS	Fetal Intestine Large	intestine
23	chr11:104837600-104839800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:104837600-104839800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:104837600-104839800	Active TSS	Thymus	Thymus
26	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:104837600-104840000	Active TSS	Placenta	Placenta
29	chr11:104837600-104840000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:104837800-104839400	Active TSS	Liver	Liver
31	chr11:104837800-104839600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr11:104837800-104839600	Active TSS	Fetal Muscle Leg	muscle
33	chr11:104837800-104839600	Active TSS	HMEC	breast
34	chr11:104837800-104839800	Active TSS	NHDF-Ad	bronchial
35	chr11:104837800-104840000	Active TSS	Brain Hippocampus Middle	brain
36	chr11:104837800-104840200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:104837800-104840200	Active TSS	Brain Anterior Caudate	brain
38	chr11:104837800-104840200	Active TSS	Ovary	ovary
39	chr11:104838000-104839400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:104838000-104839600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:104838000-104839600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:104838000-104839600	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:104838000-104839800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:104838000-104840200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:104838000-104840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:104838000-104840600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:104838200-104839400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:104838200-104839400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:104838200-104839400	Active TSS	Small Intestine	intestine
50	chr11:104838200-104839600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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