Variant report

Variant	rs72771223
Chromosome Location	chr10:3845218-3845219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3841262..3842953-chr10:3844726..3846302,2	MCF-7	breast:
2	chr10:3844115..3845978-chr10:3894603..3897488,2	K562	blood:
3	chr10:3844661..3847626-chr10:3892286..3894671,2	K562	blood:
4	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
5	chr10:3843369..3848661-chr10:3868056..3873522,8	K562	blood:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10508266	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12774242	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2388850	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7918147	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv540447	chr10:3777819-3847629	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv540450	chr10:3804336-3859639	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv540451	chr10:3804336-3868002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv540453	chr10:3811996-3847629	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv540455	chr10:3820854-3847629	Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	n/a
7	nsv540456	chr10:3820854-3868002	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	n/a
8	nsv540457	chr10:3822531-3847629	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
9	nsv1045571	chr10:3839308-3874184	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv540458	chr10:3839308-3874184	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv3324337	chr10:3842852-3847150	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3833000-3847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:3834800-3846600	Weak transcription	NHLF	lung
3	chr10:3840000-3846400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:3841800-3846400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:3842800-3846400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:3842800-3846400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr10:3843000-3847800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr10:3843000-3852000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:3843400-3845400	Enhancers	Left Ventricle	heart
10	chr10:3843400-3846400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:3843400-3848200	Weak transcription	Spleen	Spleen
12	chr10:3843600-3845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:3843800-3845400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:3843800-3845600	Weak transcription	HSMMtube	muscle
15	chr10:3843800-3846000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:3843800-3846400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr10:3844200-3845400	Enhancers	Pancreas	Pancrea
18	chr10:3844400-3846400	Enhancers	Primary hematopoietic stem cells	blood
19	chr10:3844400-3846400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:3844400-3847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:3844600-3845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:3844600-3845400	Flanking Active TSS	Fetal Heart	heart
23	chr10:3844600-3846000	Enhancers	Lung	lung
24	chr10:3844600-3846400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:3844600-3846400	Enhancers	Dnd41	blood
26	chr10:3844800-3845400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:3844800-3845400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:3844800-3845400	Enhancers	Fetal Kidney	kidney
29	chr10:3844800-3845400	Enhancers	Gastric	stomach
30	chr10:3844800-3846000	Enhancers	Fetal Brain Female	brain
31	chr10:3844800-3846000	Enhancers	Right Atrium	heart
32	chr10:3844800-3846200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:3844800-3846400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:3844800-3847200	Flanking Active TSS	K562	blood
35	chr10:3844800-3847400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr10:3844800-3847600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr10:3844800-3850000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:3844800-3854600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:3844800-3854600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr10:3845000-3845400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr10:3845000-3845400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr10:3845000-3845600	Enhancers	Fetal Brain Male	brain
43	chr10:3845000-3846000	Enhancers	Primary B cells from cord blood	blood
44	chr10:3845000-3846000	Enhancers	Liver	Liver
45	chr10:3845000-3846200	Enhancers	NHDF-Ad	bronchial
46	chr10:3845000-3846400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr10:3845000-3848200	Enhancers	Stomach Mucosa	stomach
48	chr10:3845000-3850600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:3845000-3851200	Enhancers	Fetal Muscle Leg	muscle
50	chr10:3845000-3851200	Enhancers	HepG2	liver

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