Variant report

Variant	rs7113170
Chromosome Location	chr11:46259945-46259946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
3	chr11:46259569..46260103-chr18:60189526..60190272,2	Hela-S3	cervix:
4	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
5	chr11:46259710..46260542-chr11:62608878..62609716,3	Hela-S3	cervix:
6	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
7	chr11:46259030..46259945-chr5:43483727..43484560,2	Hela-S3	cervix:
8	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
9	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
10	chr11:46257955..46261525-chr11:46335370..46339844,7	K562	blood:
11	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
12	chr11:46259536..46260396-chr14:23503731..23504456,2	Hela-S3	cervix:
13	chr11:46259352..46260231-chr7:100026866..100027759,2	Hela-S3	cervix:
14	chr11:46258260..46260369-chr11:46866327..46868431,2	MCF-7	breast:
15	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
16	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
17	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
18	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
19	chr11:46259592..46260183-chr18:20513247..20513772,2	Hela-S3	cervix:
20	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
21	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
22	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
23	chr10:102133126..102133673-chr11:46259681..46260455,2	Hela-S3	cervix:
24	chr11:46259392..46259949-chr19:55918647..55919339,2	Hela-S3	cervix:
25	chr11:46257536..46260038-chr11:46298629..46301325,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L1-1	chr11:46259933-46260056	ENSG00000254639

No data

Variant related genes	Relation type
ENSG00000108106	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000265943	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000141664	Chromatin interaction
ENSG00000254653	Chromatin interaction
ENSG00000100804	Chromatin interaction
ENSG00000235823	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000264817	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000101773	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10501317	0.83[ASN][1000 genomes]
rs11605191	0.96[ASN][1000 genomes]
rs28755875	0.96[ASN][1000 genomes]
rs35671387	0.96[ASN][1000 genomes]
rs58301639	0.96[ASN][1000 genomes]
rs58678374	0.96[ASN][1000 genomes]
rs7104451	0.96[ASN][1000 genomes]
rs7116965	0.96[ASN][1000 genomes]
rs72908050	0.83[ASN][1000 genomes]
rs72908052	0.83[ASN][1000 genomes]
rs72908065	0.83[ASN][1000 genomes]
rs72908086	0.86[ASN][1000 genomes]
rs72908089	0.90[ASN][1000 genomes]
rs72908091	0.90[ASN][1000 genomes]
rs72908092	0.90[ASN][1000 genomes]
rs72908096	0.90[ASN][1000 genomes]
rs72908098	0.90[ASN][1000 genomes]
rs72908102	0.90[ASN][1000 genomes]
rs72910006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910027	0.86[ASN][1000 genomes]
rs7926726	0.96[ASN][1000 genomes]
rs7931075	0.96[ASN][1000 genomes]
rs7943808	0.90[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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr11:46258000-46260000	Enhancers	GM12878-XiMat	blood
2	chr11:46258200-46261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:46258400-46261400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:46258600-46260000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:46258600-46260000	Active TSS	Brain Anterior Caudate	brain
6	chr11:46258600-46260600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:46258600-46260600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:46258600-46261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:46258600-46261800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:46258800-46260000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:46258800-46260000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:46258800-46260000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:46258800-46260000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr11:46258800-46260000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr11:46258800-46260000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr11:46258800-46260200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:46258800-46260200	Active TSS	A549	lung
18	chr11:46258800-46260400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:46258800-46260800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr11:46258800-46260800	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr11:46258800-46261000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:46258800-46261200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:46259000-46260000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:46259000-46260000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:46259000-46260000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr11:46259000-46260000	Bivalent/Poised TSS	HepG2	liver
27	chr11:46259000-46260200	Active TSS	Brain Angular Gyrus	brain
28	chr11:46259000-46260200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:46259000-46260600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:46259000-46260600	Active TSS	Right Atrium	heart
31	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:46259000-46260800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:46259000-46261000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:46259200-46260000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr11:46259200-46260000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:46259200-46260000	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:46259200-46260000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:46259200-46260000	Bivalent Enhancer	Fetal Brain Male	brain
40	chr11:46259200-46260000	Active TSS	Fetal Heart	heart
41	chr11:46259200-46260000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr11:46259200-46260000	Active TSS	Hela-S3	cervix
43	chr11:46259200-46260200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:46259200-46260200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr11:46259200-46260200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:46259200-46260200	Bivalent/Poised TSS	Fetal Lung	lung
47	chr11:46259200-46260200	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:46259200-46260200	Active TSS	HSMMtube	muscle
49	chr11:46259200-46260200	Active TSS	Osteobl	bone
50	chr11:46259200-46260400	Bivalent/Poised TSS	Fetal Brain Female	brain

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