Variant report

Variant	rs6800247
Chromosome Location	chr3:141175392-141175393
allele	A/T
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141083112..141085653-chr3:141174087..141176079,2	MCF-7	breast:
2	chr3:141086425..141088887-chr3:141174071..141176856,2	K562	blood:
3	chr3:141025929..141033510-chr3:141171081..141179408,10	MCF-7	breast:
4	chr3:141119971..141122596-chr3:141173473..141175987,4	MCF-7	breast:
5	chr3:141085844..141090637-chr3:141172239..141176083,8	MCF-7	breast:
6	chr3:141084648..141088549-chr3:141172324..141176689,9	MCF-7	breast:
7	chr3:141138083..141140957-chr3:141173553..141175424,3	MCF-7	breast:
8	chr3:141174636..141177502-chr3:141205473..141207739,2	K562	blood:
9	chr3:141172536..141178199-chr3:141203718..141209390,5	K562	blood:
10	chr3:141173863..141176628-chr3:141274663..141277094,3	MCF-7	breast:
11	chr3:140992139..140994461-chr3:141173161..141175634,3	MCF-7	breast:
12	chr3:141173421..141179159-chr3:141204636..141208201,13	MCF-7	breast:
13	chr3:141173783..141176363-chr3:141184238..141186556,4	MCF-7	breast:
14	chr3:141158936..141162571-chr3:141173016..141176156,4	MCF-7	breast:
15	chr3:141029860..141032097-chr3:141173989..141175746,3	K562	blood:
16	chr3:141021167..141023220-chr3:141175267..141177541,2	MCF-7	breast:
17	chr3:141173922..141177182-chr3:141288723..141292910,3	MCF-7	breast:
18	chr3:141078564..141081479-chr3:141173622..141176571,3	MCF-7	breast:
19	chr3:141145737..141147398-chr3:141173566..141175640,2	MCF-7	breast:
20	chr3:141025955..141033087-chr3:141172047..141179174,18	MCF-7	breast:
21	chr3:141133198..141135160-chr3:141173942..141176696,2	MCF-7	breast:
22	chr3:141169931..141172145-chr3:141175203..141179161,4	K562	blood:
23	chr3:141128423..141130797-chr3:141173455..141176523,3	MCF-7	breast:
24	chr3:141172650..141176530-chr3:141204410..141207330,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000155893	Chromatin interaction
ENSG00000155903	Chromatin interaction
ENSG00000249540	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2291601	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34462603	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732867	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732868	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs3755767	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3773839	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55951689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61732448	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6769161	0.90[YRI][hapmap]
rs6795622	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73869612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73869618	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73872729	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7624021	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7637336	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7637458	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7637802	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9682548	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141164200-141176400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:141166600-141176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:141166600-141181600	Weak transcription	Pancreas	Pancrea
4	chr3:141166800-141176400	Weak transcription	HMEC	breast
5	chr3:141166800-141179200	Weak transcription	Fetal Brain Male	brain
6	chr3:141167400-141176600	Weak transcription	HSMM	muscle
7	chr3:141168400-141179200	Weak transcription	Fetal Heart	heart
8	chr3:141168600-141181800	Weak transcription	Aorta	Aorta
9	chr3:141169000-141179000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:141171400-141179200	Weak transcription	Small Intestine	intestine
11	chr3:141171600-141179000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:141173000-141175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:141173000-141175600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:141173800-141177000	Enhancers	Fetal Intestine Large	intestine
15	chr3:141174000-141175600	Enhancers	Fetal Lung	lung
16	chr3:141174000-141175800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:141174200-141175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:141174200-141175600	Enhancers	Ovary	ovary
19	chr3:141174200-141176000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:141174200-141176400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:141174200-141176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:141174200-141176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:141174200-141179000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:141174200-141179000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:141174200-141179200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:141174200-141181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:141174200-141182200	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:141174200-141182400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:141174200-141182400	Weak transcription	Brain Substantia Nigra	brain
30	chr3:141174400-141175400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:141174400-141175400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr3:141174400-141176400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:141174400-141177600	Enhancers	K562	blood
34	chr3:141174600-141175400	Enhancers	Gastric	stomach
35	chr3:141174600-141176800	Enhancers	Stomach Mucosa	stomach
36	chr3:141174600-141178400	Enhancers	HepG2	liver
37	chr3:141174800-141175600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:141174800-141175600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr3:141174800-141176000	Weak transcription	Osteobl	bone
40	chr3:141174800-141176600	Weak transcription	A549	lung
41	chr3:141174800-141178800	Weak transcription	NH-A	brain
42	chr3:141174800-141180800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:141175000-141175400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:141175000-141175400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:141175000-141175400	Active TSS	Adipose Nuclei	Adipose
46	chr3:141175000-141175400	Weak transcription	Fetal Intestine Small	intestine
47	chr3:141175000-141176000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:141175000-141176400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:141175000-141178000	Enhancers	NHLF	lung
50	chr3:141175200-141175400	Enhancers	NHDF-Ad	bronchial

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