Variant report

Variant	rs13222893
Chromosome Location	chr7:55960383-55960384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:55954730..55957550-chr7:55957932..55963672,5	K562	blood:
2	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:
3	chr7:55954730..55957503-chr7:55957932..55960617,3	K562	blood:

Variant related genes	Relation type
ENSG00000249773	Chromatin interaction
ENSG00000178665	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10257154	0.87[ASN][1000 genomes]
rs13222500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13232723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13232756	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13239795	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13243072	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13243725	0.82[EUR][1000 genomes]
rs13340526	0.82[EUR][1000 genomes]
rs28498258	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34015089	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34114241	0.94[AMR][1000 genomes]
rs34304703	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34719181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34719521	0.82[EUR][1000 genomes]
rs34874704	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35092795	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35160834	0.82[EUR][1000 genomes]
rs35208675	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35304280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35811559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4360246	0.82[EUR][1000 genomes]
rs56917729	0.82[EUR][1000 genomes]
rs71543767	0.84[EUR][1000 genomes]
rs71543770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71543773	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73343714	0.82[EUR][1000 genomes]
rs73343719	0.82[EUR][1000 genomes]
rs924900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55955400-55961600	Weak transcription	Spleen	Spleen
2	chr7:55955400-56004200	Weak transcription	Gastric	stomach
3	chr7:55955800-55973800	Weak transcription	Left Ventricle	heart
4	chr7:55955800-55975000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:55955800-55985800	Weak transcription	Esophagus	oesophagus
6	chr7:55956000-55974200	Weak transcription	Aorta	Aorta
7	chr7:55956000-55979600	Weak transcription	Psoas Muscle	Psoas
8	chr7:55956200-55961600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:55956200-55961600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:55956200-55962600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:55956200-55967600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:55956200-55973800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:55956200-55974000	Weak transcription	Ovary	ovary
14	chr7:55956200-55974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:55956200-55975200	Weak transcription	HSMMtube	muscle
16	chr7:55956200-55979400	Weak transcription	Primary T cells from cord blood	blood
17	chr7:55956200-55979600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:55956200-55990800	Weak transcription	Thymus	Thymus
19	chr7:55956200-56002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:55956400-55961200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:55956400-55961600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:55956400-55961600	Weak transcription	Right Atrium	heart
23	chr7:55956400-55961600	Weak transcription	HepG2	liver
24	chr7:55956400-55963400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:55956400-55965200	Weak transcription	Fetal Lung	lung
26	chr7:55956400-55965400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:55956400-55965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:55956400-55966000	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:55956400-55967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:55956400-55968200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:55956400-55973800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:55956400-55974400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:55956400-55974800	Weak transcription	Fetal Kidney	kidney
34	chr7:55956400-55975000	Weak transcription	Liver	Liver
35	chr7:55956400-55979000	Weak transcription	Brain Substantia Nigra	brain
36	chr7:55956400-55979600	Weak transcription	Brain Angular Gyrus	brain
37	chr7:55956400-55979800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:55956400-55990600	Weak transcription	Brain Anterior Caudate	brain
39	chr7:55956400-55995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:55956400-55998800	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:55956600-55960600	Weak transcription	Brain Germinal Matrix	brain
42	chr7:55956600-55961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:55956600-55961600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:55956600-55961600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:55956600-55961600	Weak transcription	Fetal Heart	heart
46	chr7:55956600-55965000	Weak transcription	Fetal Brain Female	brain
47	chr7:55956600-55966000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:55956600-55968800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:55956600-55974600	Weak transcription	Fetal Brain Male	brain
50	chr7:55956600-55979400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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