Variant report

Variant	rs73473584
Chromosome Location	chr7:139953680-139953681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139953570..139955142-chr7:139966786..139968898,2	MCF-7	breast:
2	chr7:139952234..139954907-chr7:139958950..139960875,2	K562	blood:
3	chr7:139929527..139932026-chr7:139951930..139954779,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12672589	0.83[EUR][1000 genomes]
rs17161447	0.87[EUR][1000 genomes]
rs58263911	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58599202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61580118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6464620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943904	0.86[EUR][1000 genomes]
rs6944218	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944258	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6960457	0.80[AFR][1000 genomes]
rs73473567	0.82[EUR][1000 genomes]
rs73473571	0.92[EUR][1000 genomes]
rs73473582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787388	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7788443	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7799803	0.96[EUR][1000 genomes];0.89[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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr7:139944000-139959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:139948400-139955200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:139951000-139954200	Enhancers	Thymus	Thymus
4	chr7:139951200-139959600	Weak transcription	Right Atrium	heart
5	chr7:139951600-139954200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:139951600-139954600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:139951600-139954800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:139951800-139953800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:139951800-139954600	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:139951800-139954600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:139951800-139955000	Enhancers	Fetal Thymus	thymus
12	chr7:139952000-139953800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:139952000-139954000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:139952000-139954600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:139952000-139954600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:139952000-139955200	Enhancers	Dnd41	blood
17	chr7:139952200-139954600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:139952400-139953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:139952400-139954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:139952400-139954000	Enhancers	HSMM	muscle
21	chr7:139952400-139954600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:139952600-139953800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:139952600-139953800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:139952600-139953800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:139952600-139953800	Enhancers	NH-A	brain
26	chr7:139952600-139953800	Enhancers	Osteobl	bone
27	chr7:139952600-139954000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:139952800-139953800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:139952800-139953800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:139952800-139953800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:139952800-139953800	Flanking Active TSS	HepG2	liver
32	chr7:139952800-139954000	Enhancers	HSMMtube	muscle
33	chr7:139952800-139955000	Enhancers	Placenta	Placenta
34	chr7:139953000-139953800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:139953000-139953800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:139953000-139953800	Enhancers	Brain Anterior Caudate	brain
37	chr7:139953000-139953800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:139953000-139953800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:139953000-139953800	Enhancers	Fetal Lung	lung
40	chr7:139953000-139953800	Enhancers	NHDF-Ad	bronchial
41	chr7:139953000-139954000	Enhancers	Liver	Liver
42	chr7:139953000-139954000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:139953200-139953800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:139953200-139953800	Enhancers	Stomach Mucosa	stomach
45	chr7:139953400-139953800	Enhancers	Brain Substantia Nigra	brain
46	chr7:139953400-139953800	Enhancers	Colon Smooth Muscle	Colon
47	chr7:139953400-139953800	Enhancers	Small Intestine	intestine
48	chr7:139953400-139954000	Enhancers	Adipose Nuclei	Adipose
49	chr7:139953400-139954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:139953400-139954800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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