Variant report

Variant	rs58409282
Chromosome Location	chr11:45938561-45938562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45938390-45939967	GM12878	blood:	n/a	n/a
2	HCFC1	chr11:45938356-45941253	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:45938519-45940823	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:45938521-45940558	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:45938541-45939943	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:45938445-45938566	K562	blood:	n/a	n/a
7	POLR2A	chr11:45938432-45938773	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:45938526-45940617	K562	blood:	n/a	n/a
9	MTA3	chr11:45938557-45940605	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45868894..45870500-chr11:45937119..45938981,2	K562	blood:
2	chr11:45937002..45939512-chr11:45985947..45988260,2	MCF-7	breast:
3	chr11:45937934..45940310-chr17:56708373..56710113,2	MCF-7	breast:
4	chr11:45906755..45908288-chr11:45937921..45939853,2	MCF-7	breast:

No data

Variant related genes	Relation type
PEX16	TF binding region
GYLTL1B	TF binding region
ENSG00000121653	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16938413	0.85[AFR][1000 genomes]
rs73468335	1.00[ASN][1000 genomes]
rs73468338	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45936000-45938600	Weak transcription	Psoas Muscle	Psoas
2	chr11:45936000-45938600	Weak transcription	Small Intestine	intestine
3	chr11:45936800-45938600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:45937000-45938600	Weak transcription	HSMMtube	muscle
5	chr11:45937200-45938600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:45937200-45938600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:45937200-45938600	Weak transcription	Osteobl	bone
8	chr11:45937200-45938800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:45937200-45938800	Weak transcription	Left Ventricle	heart
10	chr11:45937400-45938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:45937600-45938600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:45937600-45938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:45937600-45938600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:45937600-45938600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr11:45937600-45938600	Weak transcription	Aorta	Aorta
16	chr11:45937600-45938600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:45937600-45938800	Enhancers	Stomach Mucosa	stomach
18	chr11:45937800-45938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:45937800-45938600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:45937800-45938600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:45937800-45938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:45937800-45938600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:45937800-45938600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:45937800-45938600	Enhancers	Primary B cells from cord blood	blood
25	chr11:45937800-45938600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:45937800-45938600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:45937800-45938600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:45937800-45938600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:45937800-45938600	Enhancers	Adipose Nuclei	Adipose
30	chr11:45937800-45938600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:45937800-45938600	Enhancers	Fetal Brain Male	brain
32	chr11:45937800-45938600	Enhancers	Fetal Thymus	thymus
33	chr11:45937800-45938600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:45937800-45938800	Weak transcription	Ovary	ovary
35	chr11:45937800-45939000	Flanking Active TSS	Dnd41	blood
36	chr11:45938000-45938600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:45938000-45938600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:45938000-45938600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:45938000-45938600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:45938000-45938600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:45938000-45938600	Enhancers	Primary T cells from cord blood	blood
42	chr11:45938000-45938600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:45938000-45938600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr11:45938000-45938600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:45938000-45938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:45938000-45938600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:45938000-45938600	Enhancers	Liver	Liver
48	chr11:45938000-45938600	Weak transcription	Brain Angular Gyrus	brain
49	chr11:45938000-45938600	Enhancers	Brain Anterior Caudate	brain
50	chr11:45938000-45938600	Enhancers	Brain Cingulate Gyrus	brain

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