Variant report

Variant	rs946783
Chromosome Location	chr10:99525318-99525319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99520953..99523231-chr10:99523311..99525677,2	K562	blood:
2	chr10:99524037..99526896-chr10:99538605..99541496,2	MCF-7	breast:
3	chr10:99519656..99522050-chr10:99523613..99525578,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11189364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11189365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11189370	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11189371	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249138	0.85[ASN][1000 genomes]
rs12264638	0.85[ASN][1000 genomes]
rs12266257	0.85[ASN][1000 genomes]
rs12269197	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377035	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108378	0.92[ASN][1000 genomes]
rs1934562	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2185365	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28549815	0.85[ASN][1000 genomes]
rs3750613	0.96[ASN][1000 genomes]
rs4378321	0.81[ASN][1000 genomes]
rs58554424	0.92[ASN][1000 genomes]
rs6584151	0.81[ASN][1000 genomes]
rs6584152	0.85[ASN][1000 genomes]
rs7095551	0.89[EUR][1000 genomes]
rs7097247	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73324634	0.81[ASN][1000 genomes]
rs73324671	0.88[ASN][1000 genomes]
rs73324700	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73326541	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99514800-99526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:99515400-99526200	Weak transcription	NH-A	brain
3	chr10:99520000-99525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:99520000-99526000	Weak transcription	K562	blood
5	chr10:99520000-99527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:99520200-99528400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:99520400-99529200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:99520400-99530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:99520600-99526600	Weak transcription	Osteobl	bone
10	chr10:99520600-99528400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:99521600-99528200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:99521800-99526000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:99522000-99526600	Weak transcription	Ovary	ovary
14	chr10:99522200-99526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:99522200-99528000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:99522200-99530800	Weak transcription	Right Ventricle	heart
17	chr10:99522400-99526800	Weak transcription	NHLF	lung
18	chr10:99522400-99527000	Weak transcription	NHEK	skin
19	chr10:99522400-99527400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:99522400-99527600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:99522400-99528200	Weak transcription	Aorta	Aorta
22	chr10:99522400-99528400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:99522400-99529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:99522400-99530200	Weak transcription	A549	lung
25	chr10:99522600-99525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:99522600-99527000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:99522600-99527000	Weak transcription	Esophagus	oesophagus
28	chr10:99522600-99527000	Weak transcription	Gastric	stomach
29	chr10:99522600-99527600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:99522600-99528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr10:99522600-99530000	Weak transcription	Fetal Intestine Large	intestine
32	chr10:99522600-99530400	Weak transcription	Primary T cells from cord blood	blood
33	chr10:99522800-99526000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:99522800-99526400	Weak transcription	Liver	Liver
35	chr10:99522800-99528200	Weak transcription	Colonic Mucosa	Colon
36	chr10:99522800-99529400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr10:99523000-99525600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:99523000-99526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:99523000-99527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:99523000-99527200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:99523000-99527800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:99523200-99525800	Enhancers	Fetal Muscle Leg	muscle
43	chr10:99523200-99526400	Enhancers	Fetal Thymus	thymus
44	chr10:99523200-99526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:99523200-99527600	Weak transcription	Lung	lung
46	chr10:99523200-99527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:99523200-99528200	Weak transcription	Brain Germinal Matrix	brain
48	chr10:99523200-99530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:99523400-99527000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:99523400-99528000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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