Variant report

Variant	rs73402277
Chromosome Location	chr11:5712914-5712915
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	POLR2A	chr11:5710194-5714647	GM12891	blood:	n/a	n/a
2	CHD2	chr11:5712913-5713066	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:5710628-5713120	GM19193	blood:	n/a	n/a
4	STAT1	chr11:5712885-5713045	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:5710344-5713953	GM12878	blood:	n/a	n/a
6	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
7	POLR2A	chr11:5712732-5713969	GM12878	blood:	n/a	n/a
8	MXI1	chr11:5712722-5713463	GM12878	blood:	n/a	n/a
9	WRNIP1	chr11:5712761-5713060	GM12878	blood:	n/a	n/a
10	MAZ	chr11:5712837-5713221	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:5710652-5713197	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5706176..5707758-chr11:5710825..5713115,2	K562	blood:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56656496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60435319	1.00[AMR][1000 genomes]
rs61612437	1.00[AMR][1000 genomes]
rs73392261	1.00[AMR][1000 genomes]
rs73402272	0.89[AFR][1000 genomes];1.00[AMR][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	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5710200-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:5710400-5714000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:5710400-5714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:5710400-5714000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:5710400-5714000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:5710600-5713000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:5710600-5713000	Active TSS	GM12878-XiMat	blood
8	chr11:5710600-5713000	Active TSS	HSMM	muscle
9	chr11:5710600-5713400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:5710600-5713600	Active TSS	Brain Anterior Caudate	brain
11	chr11:5710600-5713600	Active TSS	Thymus	Thymus
12	chr11:5710600-5713800	Active TSS	Primary T cells fromperipheralblood	blood
13	chr11:5710600-5713800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:5710600-5713800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:5710600-5713800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:5710600-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:5710600-5714000	Active TSS	Right Atrium	heart
18	chr11:5710800-5713000	Active TSS	Left Ventricle	heart
19	chr11:5710800-5713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:5710800-5713200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:5710800-5713200	Active TSS	Fetal Muscle Leg	muscle
22	chr11:5710800-5713400	Active TSS	Primary B cells from peripheral blood	blood
23	chr11:5710800-5713400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:5710800-5713400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:5710800-5713400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr11:5710800-5713400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:5710800-5713400	Active TSS	Fetal Thymus	thymus
28	chr11:5710800-5713600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:5710800-5713600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:5710800-5713800	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:5710800-5714000	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:5711000-5713000	Active TSS	Lung	lung
33	chr11:5711000-5713000	Active TSS	Right Ventricle	heart
34	chr11:5711000-5713000	Active TSS	Small Intestine	intestine
35	chr11:5711000-5713200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr11:5711000-5713400	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:5711000-5713400	Active TSS	Liver	Liver
38	chr11:5711000-5713400	Active TSS	Stomach Smooth Muscle	stomach
39	chr11:5711000-5713600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:5711000-5713600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr11:5711000-5713800	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:5711000-5714000	Active TSS	Brain Hippocampus Middle	brain
43	chr11:5711200-5713000	Active TSS	Brain Substantia Nigra	brain
44	chr11:5711200-5713400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:5711400-5714000	Flanking Active TSS	Dnd41	blood
46	chr11:5711600-5713600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:5711600-5717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:5711800-5713200	Flanking Active TSS	Osteobl	bone
49	chr11:5711800-5714000	Active TSS	Adipose Nuclei	Adipose
50	chr11:5711800-5717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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