Variant report

Variant	rs11546939
Chromosome Location	chr7:5567677-5567678
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:5532821..5537343-chr7:5561090..5568556,9	MCF-7	breast:
2	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
3	chr1:173836407..173838525-chr7:5566132..5567901,2	K562	blood:
4	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
5	chr7:5567652..5570729-chr7:5716334..5720767,4	MCF-7	breast:
6	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
7	chr7:5531674..5538636-chr7:5559187..5568754,14	K562	blood:
8	chr7:5529665..5550961-chr7:5562806..5572698,47	MCF-7	breast:
9	chr6:26216471..26218036-chr7:5566391..5569236,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272953	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000228974	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13447414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7785031	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7803040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
8	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
9	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
10	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
11	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
12	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
13	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
15	nsv517558	chr7:5506499-5572132	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	260 gene(s)	inside rSNPs	diseases
16	nsv887411	chr7:5516940-5568294	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
17	nsv471304	chr7:5516940-5568366	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
18	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
19	nsv530985	chr7:5536846-5570918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	246 gene(s)	inside rSNPs	diseases
20	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
21	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
22	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
23	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
24	nsv981426	chr7:5566521-5573661	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5561200-5569200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5565000-5569400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
3	chr7:5565000-5570000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:5565000-5570000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:5565200-5569200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
6	chr7:5565200-5569200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
7	chr7:5565200-5569200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr7:5565200-5569400	Transcr. at gene 5' and 3'	Osteobl	bone
9	chr7:5565200-5570000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:5565400-5570200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
11	chr7:5565600-5569000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
12	chr7:5565600-5569000	Transcr. at gene 5' and 3'	NH-A	brain
13	chr7:5565600-5569200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr7:5565600-5569200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr7:5565600-5569400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
16	chr7:5565600-5570000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:5565600-5570200	Transcr. at gene 5' and 3'	NHLF	lung
18	chr7:5565800-5568800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
19	chr7:5566000-5569000	Transcr. at gene 5' and 3'	HSMM	muscle
20	chr7:5566000-5569200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
21	chr7:5566000-5569200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
22	chr7:5566000-5569200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
23	chr7:5566000-5569400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr7:5566000-5569400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
25	chr7:5566000-5569400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
26	chr7:5566000-5570000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:5566200-5569000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:5566200-5569200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:5566200-5569200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
30	chr7:5566200-5569200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:5566200-5569200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:5566200-5569200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
33	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
34	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
37	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
39	chr7:5566200-5569400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
40	chr7:5566200-5569400	Transcr. at gene 5' and 3'	A549	lung
41	chr7:5566200-5570000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
42	chr7:5566200-5570200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
43	chr7:5566200-5571000	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr7:5566400-5568800	Transcr. at gene 5' and 3'	Hela-S3	cervix
45	chr7:5566400-5569200	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
46	chr7:5566400-5569200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
47	chr7:5566400-5569200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5566400-5569200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
49	chr7:5566400-5569200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
50	chr7:5566400-5569400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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