Variant report

Variant	rs11822095
Chromosome Location	chr11:57194155-57194156
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	chr11:57191261-57195084	K562	blood:	n/a	n/a
2	MAX	chr11:57192105-57195056	NB4	blood:	n/a	chr11:57193991-57194004 chr11:57192303-57192313 chr11:57193410-57193419 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193409-57193420 chr11:57193409-57193420 chr11:57193993-57194003 chr11:57192755-57192766 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57192440-57192449 chr11:57193992-57194001 chr11:57193409-57193420 chr11:57192754-57192769 chr11:57193992-57194003 chr11:57193992-57194003
3	POLR2A	chr11:57191114-57195043	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:57191115-57195177	GM12892	blood:	n/a	n/a
5	STAT3	chr11:57193762-57194315	MCF10A-Er-Src	breast:	n/a	chr11:57193912-57193920
6	MAX	chr11:57191980-57195156	K562	blood:	n/a	chr11:57193991-57194004 chr11:57192303-57192313 chr11:57193410-57193419 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193409-57193420 chr11:57193409-57193420 chr11:57193993-57194003 chr11:57192755-57192766 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57192440-57192449 chr11:57193992-57194001 chr11:57193409-57193420 chr11:57192754-57192769 chr11:57193992-57194003 chr11:57193992-57194003
7	MTA3	chr11:57191526-57195524	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:57191591-57194992	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:57193648-57194922	K562	blood:	n/a	n/a
10	POLR2A	chr11:57191113-57195429	HL-60	blood:	n/a	n/a
11	MYC	chr11:57193487-57194164	K562	blood:	n/a	chr11:57193991-57194004 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193993-57194003 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57193992-57194001 chr11:57193992-57194003 chr11:57193992-57194003
12	POLR2A	chr11:57192189-57195457	Raji	blood:	n/a	n/a
13	POLR2A	chr11:57191441-57195068	GM18526	blood:	n/a	n/a
14	POLR2A	chr11:57192099-57194232	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:57194095-57194177	HUVEC	blood vessel:	n/a	n/a
16	CEBPB	chr11:57193902-57194214	K562	blood:	n/a	n/a
17	MTA3	chr11:57191939-57194306	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:57193811-57194996	GM12878	blood:	n/a	n/a
19	MYC	chr11:57192097-57195095	NB4	blood:	n/a	chr11:57193991-57194004 chr11:57192303-57192313 chr11:57193410-57193419 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193409-57193420 chr11:57193409-57193420 chr11:57193993-57194003 chr11:57192755-57192766 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57192440-57192449 chr11:57193992-57194001 chr11:57193409-57193420 chr11:57192754-57192769 chr11:57193992-57194003 chr11:57193992-57194003
20	STAT3	chr11:57193697-57194305	MCF10A-Er-Src	breast:	n/a	chr11:57193912-57193920 chr11:57193733-57193741 chr11:57193754-57193766
21	YY1	chr11:57193770-57194160	GM12892	blood:	n/a	n/a
22	MYC	chr11:57192128-57194621	K562	blood:	n/a	chr11:57193991-57194004 chr11:57192303-57192313 chr11:57193410-57193419 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193409-57193420 chr11:57193409-57193420 chr11:57193993-57194003 chr11:57192755-57192766 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57192440-57192449 chr11:57193992-57194001 chr11:57193409-57193420 chr11:57192754-57192769 chr11:57193992-57194003 chr11:57193992-57194003
23	PML	chr11:57191892-57195093	GM12878	blood:	n/a	chr11:57192441-57192450
24	USF1	chr11:57193789-57194240	H1-hESC	embryonic stem cell:	n/a	n/a
25	PML	chr11:57194029-57194756	K562	blood:	n/a	n/a
26	TBP	chr11:57193796-57194979	GM12878	blood:	n/a	n/a
27	USF1	chr11:57193838-57194180	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:57191153-57195123	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:57192095-57194977	NB4	blood:	n/a	n/a
30	NR2F2	chr11:57193165-57194182	K562	blood:	n/a	n/a
31	STAT5A	chr11:57193924-57194919	GM12878	blood:	n/a	chr11:57194601-57194613 chr11:57194607-57194619
32	POLR2A	chr11:57191285-57195328	K562	blood:	n/a	n/a
33	MAX	chr11:57193717-57195177	HCT-116	colon:	n/a	chr11:57193991-57194004 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193993-57194003 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57193992-57194001 chr11:57193992-57194003 chr11:57193992-57194003
34	POLR2A	chr11:57192131-57195018	GM15510	blood:	n/a	n/a
35	RCOR1	chr11:57194153-57194960	GM12878	blood:	n/a	n/a
36	RUNX3	chr11:57192047-57195167	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:57191219-57194857	GM12891	blood:	n/a	n/a
38	MYC	chr11:57192188-57195515	MCF10A-Er-Src	breast:	n/a	chr11:57193991-57194004 chr11:57192303-57192313 chr11:57193410-57193419 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193409-57193420 chr11:57193409-57193420 chr11:57193993-57194003 chr11:57192755-57192766 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57192440-57192449 chr11:57193992-57194001 chr11:57193409-57193420 chr11:57192754-57192769 chr11:57193992-57194003 chr11:57193992-57194003
39	MAX	chr11:57193464-57194850	H1-hESC	embryonic stem cell:	n/a	chr11:57193991-57194004 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193993-57194003 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57193992-57194001 chr11:57193992-57194003 chr11:57193992-57194003
40	MAX	chr11:57193821-57194566	H1-hESC	embryonic stem cell:	n/a	chr11:57193991-57194004 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193993-57194003 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57193992-57194001 chr11:57193992-57194003 chr11:57193992-57194003
41	MAZ	chr11:57193977-57195268	GM12878	blood:	n/a	chr11:57193991-57194004 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194002 chr11:57193993-57194002 chr11:57193992-57194003 chr11:57193993-57194003 chr11:57193993-57194002 chr11:57193991-57194004 chr11:57193993-57194003 chr11:57193992-57194003 chr11:57193991-57194006 chr11:57193992-57194001 chr11:57193992-57194003 chr11:57193992-57194003
42	POLR2A	chr11:57192079-57195002	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr11:57194113-57194964	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:57191305-57194984	GM12878	blood:	n/a	n/a
45	RCOR1	chr11:57193920-57194238	K562	blood:	n/a	n/a
46	ZEB1	chr11:57193966-57194181	GM12878	blood:	n/a	chr11:57194040-57194047
47	WRNIP1	chr11:57191369-57195127	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:57191179-57195028	K562	blood:	n/a	n/a
49	IRF1	chr11:57193958-57194858	K562	blood:	n/a	chr11:57194624-57194638
50	POLR2A	chr11:57191196-57195715	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57194120-57194170	IMR90	lung:	fetal
2	chr11:57194120-57194170	HNPCEpiC	eye:	n/a
3	chr11:57194120-57194170	GM12891	blood:	n/a
4	chr11:57194120-57194170	NT2-D1	testis:	n/a
5	chr11:57194120-57194170	BJ	skin:	n/a
6	chr11:57194120-57194170	Hepatocyte	liver:	n/a
7	chr11:57194120-57194170	MCF-7	breast:	n/a
8	chr11:57194120-57194170	GM12878	blood:	n/a
9	chr11:57194120-57194170	ProgFib	skin:	n/a
10	chr11:57194120-57194170	HCM	heart:	n/a
11	chr11:57194120-57194170	HRPEpiC	eye:	n/a
12	chr11:57194120-57194170	SK-N-SH	brain:	n/a
13	chr11:57194120-57194170	ECC-1	luminal epithelium:	n/a
14	chr11:57194120-57194170	NH-A	brain:	n/a
15	chr11:57194120-57194170	A549	lung:	n/a
16	chr11:57194120-57194170	AG09319	gingival:	n/a
17	chr11:57194120-57194170	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:57194120-57194170	HMEC	breast:	n/a
19	chr11:57194120-57194170	AG04450	lung:	fetal
20	chr11:57194120-57194170	HEK293	kidney:	embryo
21	chr11:57194120-57194170	SAEC	small airway:	n/a
22	chr11:57194120-57194170	AG10803	skin:	n/a
23	chr11:57194120-57194170	LNCaP	prostate:	n/a
24	chr11:57194120-57194170	AG04449	skin:	fetal
25	chr11:57194120-57194170	HEEpiC	esophagus:	n/a
26	chr11:57194120-57194170	NHDF-neo	bronchial:	n/a
27	chr11:57194120-57194170	PANC-1	pancreas:	n/a
28	chr11:57194120-57194170	CMK	blood:	n/a
29	chr11:57194120-57194170	T-47D	breast:	n/a
30	chr11:57194120-57194170	K562	blood:	n/a
31	chr11:57194120-57194170	HL-60	blood:	n/a
32	chr11:57194120-57194170	ovcar-3	ovarian:	n/a
33	chr11:57194120-57194170	RPTEC	kidney:	n/a
34	chr11:57194120-57194170	HCF	heart:	n/a
35	chr11:57194120-57194170	SK-N-SH_RA	brain:	n/a
36	chr11:57194120-57194170	GM06990	blood:	n/a
37	chr11:57194120-57194170	MCF10A-Er-Src	breast:	n/a
38	chr11:57194120-57194170	Jurkat	blood:	n/a
39	chr11:57194120-57194170	H1-hESC	embryonic stem cell:	embryo
40	chr11:57194120-57194170	HIPEpiC	eye:	n/a
41	chr11:57194120-57194170	U87	brain:	n/a
42	chr11:57194120-57194170	PrEC	prostate:	n/a
43	chr11:57194120-57194170	NB4	blood:	n/a
44	chr11:57194120-57194170	PFSK-1	brain:	n/a
45	chr11:57194120-57194170	Hela-S3	cervix:	n/a
46	chr11:57194120-57194170	SKMC	muscle:	n/a
47	chr11:57194120-57194170	AoSMC	blood vessel:	n/a
48	chr11:57194120-57194170	Caco-2	colon:	n/a
49	chr11:57194120-57194170	HAEpiC	amniotic membrane:	n/a
50	chr11:57194120-57194170	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57092537..57094239-chr11:57192344..57194712,2	K562	blood:
2	chr11:57194115..57196219-chr11:57423627..57426056,2	K562	blood:
3	chr11:57194137..57194904-chr7:2594523..2595486,2	NB4	blood:
4	chr11:57194058..57195845-chr11:57267357..57269723,2	K562	blood:
5	chr11:57192480..57194732-chr11:57434843..57437661,2	K562	blood:
6	chr11:57094351..57096693-chr11:57193203..57197242,3	K562	blood:

Variant related genes	Relation type
SLC43A3	TF binding region
ENSG00000254979	TF binding region
ENSG00000254979	CpG island
SLC43A3	CpG island
ENSG00000172409	Chromatin interaction
ENSG00000254662	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000238692	Chromatin interaction
ENSG00000106009	Chromatin interaction
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11229028	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11820985	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11822910	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11827928	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11828218	1.00[ASN][1000 genomes]
rs12422015	1.00[ASN][1000 genomes]
rs12788236	0.81[ASN][1000 genomes]
rs2250887	0.96[ASN][1000 genomes]
rs2439448	1.00[ASN][1000 genomes]
rs2581924	0.85[ASN][1000 genomes]
rs2581928	0.96[ASN][1000 genomes]
rs2584858	0.82[ASN][1000 genomes]
rs2729389	0.85[ASN][1000 genomes]
rs4477456	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4529894	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60961847	0.91[ASN][1000 genomes]
rs61886978	0.98[ASN][1000 genomes]
rs7106223	0.91[ASN][1000 genomes]
rs7122734	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers 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	109 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	chr11:57191200-57194400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:57191400-57194200	Transcr. at gene 5' and 3'	K562	blood
3	chr11:57191600-57194200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:57191600-57195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:57191600-57195600	Enhancers	Spleen	Spleen
6	chr11:57191800-57194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:57191800-57194200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:57191800-57194200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr11:57191800-57194200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr11:57191800-57194800	Enhancers	Fetal Heart	heart
11	chr11:57191800-57195000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:57191800-57195000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:57191800-57195000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:57191800-57195200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:57192000-57194200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:57192000-57194200	Flanking Active TSS	Liver	Liver
17	chr11:57192000-57194400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr11:57192000-57194600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr11:57192000-57195000	Flanking Active TSS	Fetal Thymus	thymus
20	chr11:57192200-57194200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:57192200-57194200	Enhancers	Brain Substantia Nigra	brain
22	chr11:57192200-57195000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr11:57192200-57195000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:57192200-57195200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr11:57192200-57195400	Flanking Active TSS	Osteobl	bone
26	chr11:57192400-57195400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:57192800-57194200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:57192800-57194200	Enhancers	Stomach Mucosa	stomach
29	chr11:57192800-57194400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:57192800-57194400	Flanking Active TSS	HSMM	muscle
31	chr11:57192800-57194800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:57192800-57195000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr11:57192800-57195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:57193000-57194400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:57193000-57194400	Enhancers	HepG2	liver
36	chr11:57193000-57195000	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr11:57193200-57194200	Flanking Active TSS	Right Atrium	heart
38	chr11:57193200-57194400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr11:57193200-57194600	Weak transcription	A549	lung
40	chr11:57193200-57195600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:57193400-57194200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr11:57193400-57194800	Flanking Active TSS	Pancreas	Pancrea
43	chr11:57193400-57195000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr11:57193400-57195000	Flanking Active TSS	HMEC	breast
45	chr11:57193400-57195000	Flanking Active TSS	HUVEC	blood vessel
46	chr11:57193400-57195200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr11:57193600-57194200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:57193600-57194200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:57193600-57194200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:57193600-57194400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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