Variant report

Variant	rs3763730
Chromosome Location	chr10:50719500-50719501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50717666..50720146-chr10:50727918..50729928,2	MCF-7	breast:
2	chr10:50713439..50715475-chr10:50717765..50720148,2	K562	blood:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10776574	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11101148	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1924489	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2209281	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2377938	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2889791	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4240505	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240506	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253009	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4253217	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838516	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4838518	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4838519	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7070896	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7082895	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7096755	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7100734	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7899981	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7904860	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7906303	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7907557	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7908359	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7922756	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7923874	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs932735	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50685000-50723400	Weak transcription	NHLF	lung
2	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
4	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
7	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
8	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
9	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
10	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:50691000-50724400	Weak transcription	Lung	lung
12	chr10:50691000-50728200	Weak transcription	Gastric	stomach
13	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
14	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
15	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
16	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
18	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
19	chr10:50706000-50723400	Weak transcription	Aorta	Aorta
20	chr10:50706000-50723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:50707000-50723600	Weak transcription	Brain Germinal Matrix	brain
23	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
24	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:50708200-50723400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:50708200-50723400	Weak transcription	K562	blood
27	chr10:50708800-50723200	Weak transcription	HSMM	muscle
28	chr10:50708800-50723400	Weak transcription	Adipose Nuclei	Adipose
29	chr10:50708800-50723400	Weak transcription	Pancreas	Pancrea
30	chr10:50711400-50723000	Weak transcription	Liver	Liver
31	chr10:50711600-50723200	Weak transcription	Hela-S3	cervix
32	chr10:50711600-50723400	Weak transcription	Fetal Intestine Large	intestine
33	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
34	chr10:50711800-50720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:50713200-50720200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:50713800-50723400	Weak transcription	NH-A	brain
37	chr10:50714200-50723200	Weak transcription	HMEC	breast
38	chr10:50714200-50723600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:50716600-50719800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:50716600-50722800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:50716800-50723400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr10:50716800-50726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:50717000-50723000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr10:50717000-50723000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr10:50717000-50723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:50717000-50723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:50717000-50723400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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