Variant report

Variant	rs4987876
Chromosome Location	chr11:108092637-108092638
allele	G/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	chr11:108091677-108096659	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:108092409-108094595	HEK293	kidney:	n/a	n/a
3	RELA	chr11:108092503-108094123	GM19193	blood:	n/a	n/a
4	RELA	chr11:108092623-108095186	GM19099	blood:	n/a	n/a
5	POLR2A	chr11:108092617-108094171	GM12878	blood:	n/a	n/a
6	YY1	chr11:108092620-108094212	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:108092551-108094701	K562	blood:	n/a	n/a
8	POLR2A	chr11:108091635-108094953	PBDE	blood:	n/a	n/a
9	MAZ	chr11:108092096-108094312	IMR90	lung:	n/a	chr11:108093678-108093685
10	RELA	chr11:108092324-108095081	GM15510	blood:	n/a	n/a
11	TAL1	chr11:108092485-108092672	K562	blood:	n/a	n/a
12	POLR2A	chr11:108092570-108094851	HepG2	liver:	n/a	n/a
13	TCF7L2	chr11:108092600-108094421	PANC-1	pancreas:	n/a	chr11:108092640-108092649 chr11:108092636-108092652 chr11:108094194-108094208 chr11:108094193-108094209 chr11:108094193-108094209 chr11:108092636-108092652
14	UBTF	chr11:108092513-108094675	K562	blood:	n/a	n/a
15	POLR2A	chr11:108092516-108095295	GM19099	blood:	n/a	n/a
16	MAX	chr11:108092592-108094081	ECC-1	luminal epithelium:	n/a	chr11:108093678-108093685
17	TBL1XR1	chr11:108092516-108094196	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:108092347-108095245	GM12891	blood:	n/a	n/a
19	RCOR1	chr11:108092580-108094991	GM12878	blood:	n/a	n/a
20	RELA	chr11:108092445-108095150	GM18951	blood:	n/a	n/a
21	POLR2A	chr11:108091667-108095477	GM12892	blood:	n/a	n/a
22	ZNF263	chr11:108092222-108095378	HEK293-T-REx	kidney:	n/a	chr11:108094029-108094038 chr11:108093834-108093843 chr11:108094096-108094105
23	NFIC	chr11:108092529-108096479	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:108092181-108095193	GM12891	blood:	n/a	n/a
25	HA-E2F1	chr11:108092545-108094211	MCF-7	breast:	n/a	chr11:108093428-108093445 chr11:108093619-108093628 chr11:108093431-108093438 chr11:108093515-108093527 chr11:108093431-108093442 chr11:108093405-108093414
26	POLR2A	chr11:108092633-108094197	Hela-S3	cervix:	n/a	n/a
27	GATA1	chr11:108091332-108096023	PBDE	blood:	n/a	chr11:108091693-108091700 chr11:108094418-108094425 chr11:108094418-108094428 chr11:108095160-108095170 chr11:108094416-108094426 chr11:108094452-108094461 chr11:108094450-108094463 chr11:108094416-108094425 chr11:108095163-108095172 chr11:108095163-108095170 chr11:108094339-108094356 chr11:108091686-108091707 chr11:108095162-108095172 chr11:108091693-108091700 chr11:108094418-108094425 chr11:108091693-108091700 chr11:108094418-108094425
28	MAX	chr11:108092167-108094849	Hela-S3	cervix:	n/a	chr11:108093678-108093685
29	RELA	chr11:108092435-108095278	GM18505	blood:	n/a	n/a
30	HEY1	chr11:108092140-108094780	K562	blood:	n/a	chr11:108094682-108094691
31	POLR2A	chr11:108092440-108095111	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:108091873-108095377	GM12878	blood:	n/a	n/a
33	PML	chr11:108091995-108092834	K562	blood:	n/a	n/a
34	CUX1	chr11:108092104-108092720	K562	blood:	n/a	n/a
35	SIN3A	chr11:108091931-108094902	GM12878	blood:	n/a	chr11:108093325-108093333
36	E2F6	chr11:108092513-108094648	K562	blood:	n/a	chr11:108093428-108093445 chr11:108093619-108093628 chr11:108093431-108093438 chr11:108093515-108093527 chr11:108093431-108093442 chr11:108093405-108093414
37	FOXM1	chr11:108092592-108094898	GM12878	blood:	n/a	chr11:108094045-108094053
38	MXI1	chr11:108091586-108094989	GM12878	blood:	n/a	n/a
39	RAD21	chr11:108092175-108094786	SK-N-SH	brain:	n/a	chr11:108092453-108092465 chr11:108094428-108094440 chr11:108094629-108094643
40	FOXM1	chr11:108092630-108094013	GM12878	blood:	n/a	n/a
41	MTA3	chr11:108092223-108095320	GM12878	blood:	n/a	n/a
42	RELA	chr11:108092235-108094119	GM10847	blood:	n/a	n/a
43	POLR2A	chr11:108092450-108095243	GM12892	blood:	n/a	n/a
44	MAX	chr11:108092146-108095124	NB4	blood:	n/a	chr11:108093678-108093685
45	TEAD4	chr11:108091453-108094949	K562	blood:	n/a	chr11:108091666-108091675
46	POLR2A	chr11:108092492-108094674	H1-hESC	embryonic stem cell:	n/a	n/a
47	BHLHE40	chr11:108092534-108095389	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:108092579-108094214	Hela-S3	cervix:	n/a	n/a
49	TBL1XR1	chr11:108092354-108093308	K562	blood:	n/a	n/a
50	PML	chr11:108091991-108095256	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108092115..108094604-chr11:108367755..108370100,3	K562	blood:
2	chr11:108091790..108094967-chr11:108462852..108466169,3	K562	blood:
3	chr11:108092435..108094238-chr11:110158688..110160206,2	MCF-7	breast:
4	chr11:107992282..107994125-chr11:108092449..108094486,3	K562	blood:
5	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
6	chr11:108092327..108094549-chr11:108338651..108340680,2	K562	blood:
7	chr11:108092600..108095376-chr11:108462934..108465266,2	MCF-7	breast:

Variant related genes	Relation type
ATM	TF binding region
ENSG00000221607	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000137710	Chromatin interaction
ENSG00000075239	Chromatin interaction
ENSG00000255467	Chromatin interaction
ENSG00000166323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11607588	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12419212	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420555	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17503908	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs228606	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs57149652	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs611646	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	45 gene(s)	inside rSNPs	diseases
2	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108089400-108093000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:108090200-108095000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:108090800-108094800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:108091000-108094000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:108091000-108097400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:108091200-108093200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:108091200-108096200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:108091400-108092800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:108091400-108093000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:108091400-108093200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:108091400-108094400	Active TSS	K562	blood
12	chr11:108091600-108093000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:108091600-108093200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:108091600-108093200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr11:108091600-108093200	Active TSS	Right Atrium	heart
16	chr11:108091600-108093400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:108091600-108094400	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr11:108091600-108094400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:108091600-108094400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:108091600-108094600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:108091600-108094800	Active TSS	Hela-S3	cervix
22	chr11:108091600-108094800	Active TSS	NHDF-Ad	bronchial
23	chr11:108091600-108095400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:108091600-108095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:108091800-108092800	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr11:108091800-108093000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:108091800-108093200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr11:108091800-108093200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:108091800-108094200	Active TSS	Placenta	Placenta
30	chr11:108091800-108094400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:108091800-108094400	Active TSS	Fetal Intestine Large	intestine
32	chr11:108091800-108094400	Active TSS	Fetal Kidney	kidney
33	chr11:108091800-108094400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:108091800-108094400	Active TSS	NHLF	lung
35	chr11:108091800-108094600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:108091800-108094600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:108091800-108094600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:108091800-108094600	Active TSS	HSMMtube	muscle
39	chr11:108091800-108094800	Active TSS	Lung	lung
40	chr11:108091800-108095000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:108091800-108095000	Active TSS	Colonic Mucosa	Colon
42	chr11:108091800-108095000	Active TSS	Left Ventricle	heart
43	chr11:108091800-108095000	Active TSS	GM12878-XiMat	blood
44	chr11:108091800-108095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:108091800-108095400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:108091800-108096200	Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:108091800-108096200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:108091800-108097000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:108091800-108097000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:108091800-108098200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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