Variant report

Variant	rs10183609
Chromosome Location	chr2:47084674-47084675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46926240..46928505-chr2:47083626..47085275,2	MCF-7	breast:
2	chr2:47081481..47084069-chr2:47084141..47086048,2	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10170987	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10177555	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10177751	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11125096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125097	0.85[ASN][1000 genomes]
rs11687883	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11689551	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2166478	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278711	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278712	0.80[ASN][1000 genomes]
rs34392693	0.80[ASN][1000 genomes]
rs4953433	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759066	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9225	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935372	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs935379	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47077200-47086200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:47078000-47085200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:47078000-47085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:47080600-47085000	Weak transcription	K562	blood
5	chr2:47080800-47103600	Enhancers	Placenta	Placenta
6	chr2:47081200-47087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47081400-47086400	Enhancers	HMEC	breast
8	chr2:47081400-47086600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:47081400-47087200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:47081400-47087800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
12	chr2:47081600-47085600	Enhancers	NH-A	brain
13	chr2:47081600-47087800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:47082200-47085000	Weak transcription	Small Intestine	intestine
15	chr2:47082200-47085200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:47082200-47085200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:47082200-47085400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
19	chr2:47082800-47085000	Weak transcription	Fetal Lung	lung
20	chr2:47083000-47086200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:47083200-47088600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:47083400-47085000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:47083400-47086000	Enhancers	NHEK	skin
24	chr2:47083600-47085200	Weak transcription	Fetal Stomach	stomach
25	chr2:47083800-47085000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:47083800-47085200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:47083800-47085200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:47083800-47085200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:47083800-47085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:47083800-47085200	Weak transcription	HSMMtube	muscle
31	chr2:47083800-47086200	Enhancers	A549	lung
32	chr2:47084000-47085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:47084000-47085000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:47084000-47085000	Weak transcription	HUVEC	blood vessel
35	chr2:47084000-47086800	Weak transcription	Spleen	Spleen
36	chr2:47084000-47088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:47084000-47088800	Weak transcription	Right Ventricle	heart
38	chr2:47084000-47093200	Weak transcription	Ovary	ovary
39	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
40	chr2:47084200-47085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:47084200-47085000	Weak transcription	NHLF	lung
42	chr2:47084200-47085200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:47084200-47085200	Weak transcription	Lung	lung
44	chr2:47084200-47085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:47084200-47087200	Enhancers	Osteobl	bone
46	chr2:47084200-47088400	Weak transcription	Left Ventricle	heart
47	chr2:47084400-47084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:47084400-47084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:47084400-47084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:47084400-47084800	Weak transcription	Stomach Smooth Muscle	stomach

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