Variant report

Variant	rs578222982
Chromosome Location	chr11:5711696-5711697
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	IKZF1	chr11:5711465-5712245	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:5710646-5712030	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:5710722-5712585	GM18951	blood:	n/a	n/a
4	WRNIP1	chr11:5710916-5712390	GM12878	blood:	n/a	n/a
5	TAF1	chr11:5710827-5711847	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:5710576-5712088	GM12878	blood:	n/a	chr11:5711132-5711145
7	POLR2A	chr11:5710194-5714647	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:5710610-5712552	GM19099	blood:	n/a	n/a
9	POLR2A	chr11:5710791-5712498	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:5711405-5712352	PBDE	blood:	n/a	n/a
11	MAZ	chr11:5711662-5712256	K562	blood:	n/a	n/a
12	POLR2A	chr11:5710656-5711961	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:5710756-5712586	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:5710656-5712774	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:5710822-5712031	U87	brain:	n/a	n/a
16	POLR2A	chr11:5710628-5713120	GM19193	blood:	n/a	n/a
17	POLR2A	chr11:5710760-5711919	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:5710722-5712429	IMR90	lung:	n/a	n/a
19	POLR2A	chr11:5710782-5712378	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr11:5710615-5712221	GM12878	blood:	n/a	n/a
21	TEAD4	chr11:5711528-5712207	K562	blood:	n/a	n/a
22	POLR2A	chr11:5710774-5711886	HUVEC	blood vessel:	n/a	n/a
23	CEBPD	chr11:5711490-5711861	K562	blood:	n/a	n/a
24	POLR2A	chr11:5711332-5711756	H1-hESC	embryonic stem cell:	n/a	n/a
25	MTA3	chr11:5710607-5711712	GM12878	blood:	n/a	n/a
26	RELA	chr11:5710751-5712525	GM12891	blood:	n/a	n/a
27	KAP1	chr11:5710777-5711900	U2OS	brain:	n/a	n/a
28	POLR2A	chr11:5710747-5712397	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:5710757-5712493	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:5710344-5713953	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:5710684-5712586	HUVEC	blood vessel:	n/a	n/a
32	CUX1	chr11:5710287-5711959	GM12878	blood:	n/a	chr11:5710472-5710486 chr11:5710328-5710342
33	GATA1	chr11:5711249-5713169	PBDE	blood:	n/a	chr11:5712979-5712986 chr11:5712979-5712986 chr11:5712083-5712095 chr11:5712979-5712986 chr11:5712975-5712991 chr11:5712085-5712092 chr11:5712085-5712094
34	GATA3	chr11:5711340-5712394	SK-N-SH	brain:	n/a	chr11:5712083-5712095 chr11:5712085-5712092 chr11:5712085-5712094
35	POLR2A	chr11:5710803-5711845	GM12878	blood:	n/a	n/a
36	CHD1	chr11:5710750-5712282	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:5710686-5712493	GM12878	blood:	n/a	n/a
38	RCOR1	chr11:5711623-5712310	K562	blood:	n/a	n/a
39	IRF1	chr11:5711525-5712188	K562	blood:	n/a	chr11:5712032-5712044 chr11:5712033-5712043 chr11:5712032-5712043 chr11:5712027-5712044 chr11:5712033-5712047 chr11:5712032-5712044 chr11:5712029-5712043
40	TBP	chr11:5710642-5712289	GM12878	blood:	n/a	n/a
41	TAL1	chr11:5711690-5711804	K562	blood:	n/a	n/a
42	POLR2A	chr11:5710626-5712611	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:5710791-5711874	H1-hESC	embryonic stem cell:	n/a	n/a
44	RELA	chr11:5710731-5711715	GM18951	blood:	n/a	n/a
45	BHLHE40	chr11:5710647-5712219	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:5710722-5711865	ProgFib	skin:	n/a	n/a
47	PML	chr11:5710628-5712384	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:5710787-5712461	GM15510	blood:	n/a	n/a
49	TBP	chr11:5710769-5711741	H1-hESC	embryonic stem cell:	n/a	n/a
50	BHLHE40	chr11:5711515-5711857	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5706176..5707758-chr11:5710825..5713115,2	K562	blood:
2	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:

Variant related genes	Relation type
TRIM22	TF binding region
ENSG00000225003	Chromatin interaction
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv896949	chr11:5711177-5722444	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5707200-5712200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:5710200-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:5710400-5712400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:5710400-5714000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:5710400-5714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:5710400-5714000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:5710400-5714000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:5710600-5712400	Active TSS	Aorta	Aorta
9	chr11:5710600-5712400	Flanking Active TSS	HUVEC	blood vessel
10	chr11:5710600-5712600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:5710600-5712800	Active TSS	NHDF-Ad	bronchial
12	chr11:5710600-5713000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:5710600-5713000	Active TSS	GM12878-XiMat	blood
14	chr11:5710600-5713000	Active TSS	HSMM	muscle
15	chr11:5710600-5713400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:5710600-5713600	Active TSS	Brain Anterior Caudate	brain
17	chr11:5710600-5713600	Active TSS	Thymus	Thymus
18	chr11:5710600-5713800	Active TSS	Primary T cells fromperipheralblood	blood
19	chr11:5710600-5713800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr11:5710600-5713800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:5710600-5713800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:5710600-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:5710600-5714000	Active TSS	Right Atrium	heart
24	chr11:5710800-5711800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:5710800-5711800	Active TSS	Fetal Brain Male	brain
26	chr11:5710800-5711800	Enhancers	K562	blood
27	chr11:5710800-5711800	Flanking Active TSS	NHEK	skin
28	chr11:5710800-5712000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:5710800-5712200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:5710800-5712200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:5710800-5712200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:5710800-5712200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:5710800-5712200	Active TSS	Fetal Muscle Trunk	muscle
34	chr11:5710800-5712200	Active TSS	Stomach Mucosa	stomach
35	chr11:5710800-5712200	Active TSS	HSMMtube	muscle
36	chr11:5710800-5712400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:5710800-5712400	Active TSS	Brain Angular Gyrus	brain
38	chr11:5710800-5712400	Flanking Active TSS	NH-A	brain
39	chr11:5710800-5712600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:5710800-5712600	Active TSS	Ovary	ovary
41	chr11:5710800-5712600	Active TSS	Psoas Muscle	Psoas
42	chr11:5710800-5712600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:5710800-5712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:5710800-5712800	Active TSS	Primary T cells from cord blood	blood
45	chr11:5710800-5712800	Active TSS	NHLF	lung
46	chr11:5710800-5713000	Active TSS	Left Ventricle	heart
47	chr11:5710800-5713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:5710800-5713200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr11:5710800-5713200	Active TSS	Fetal Muscle Leg	muscle
50	chr11:5710800-5713400	Active TSS	Primary B cells from peripheral blood	blood

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