Variant report

Variant	rs73115623
Chromosome Location	chr7:38856889-38856890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001476	1.00[EUR][1000 genomes]
rs10486680	0.98[EUR][1000 genomes]
rs11970960	0.96[EUR][1000 genomes]
rs11971030	1.00[EUR][1000 genomes]
rs11977016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11978816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11980534	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982889	1.00[EUR][1000 genomes]
rs11984145	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112141	1.00[EUR][1000 genomes]
rs1557941	1.00[EUR][1000 genomes]
rs16879964	1.00[EUR][1000 genomes]
rs16879966	0.96[EUR][1000 genomes]
rs17171465	1.00[EUR][1000 genomes]
rs17171466	1.00[EUR][1000 genomes]
rs28680843	0.96[EUR][1000 genomes]
rs34753378	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60354841	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68175808	1.00[EUR][1000 genomes]
rs6962120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976100	1.00[EUR][1000 genomes]
rs713243	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73113674	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113680	1.00[EUR][1000 genomes]
rs73113689	1.00[EUR][1000 genomes]
rs73113699	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121381	1.00[EUR][1000 genomes]
rs73121384	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121386	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121396	0.96[EUR][1000 genomes]
rs73121399	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73123603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73123614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73123618	0.96[EUR][1000 genomes]
rs73123621	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73123624	0.96[EUR][1000 genomes]
rs73123626	0.96[EUR][1000 genomes]
rs73123893	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73125633	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7812184	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032637	chr7:38832627-38902723	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38793400-38861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:38813800-38857400	Weak transcription	HSMM	muscle
3	chr7:38829400-38864400	Weak transcription	Thymus	Thymus
4	chr7:38829400-38864600	Weak transcription	NHLF	lung
5	chr7:38831000-38871200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:38831800-38857000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:38831800-38867800	Weak transcription	Fetal Thymus	thymus
8	chr7:38832000-38857400	Weak transcription	Lung	lung
9	chr7:38832800-38857000	Weak transcription	Esophagus	oesophagus
10	chr7:38833400-38857000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:38833400-38859400	Weak transcription	Spleen	Spleen
12	chr7:38833600-38857000	Weak transcription	Aorta	Aorta
13	chr7:38833600-38857200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:38834400-38863400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:38835200-38857000	Weak transcription	Fetal Lung	lung
16	chr7:38835200-38865200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:38835400-38857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:38835600-38857400	Weak transcription	Ovary	ovary
19	chr7:38835600-38857600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:38835600-38862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:38835600-38900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:38835800-38858600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:38836400-38857400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:38839800-38871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:38841000-38858200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:38842000-38865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:38847400-38869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:38847800-38857000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:38847800-38862400	Weak transcription	Brain Angular Gyrus	brain
30	chr7:38847800-38866800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:38848000-38861200	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:38848200-38861800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:38850200-38865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:38850600-38869600	Weak transcription	Stomach Mucosa	stomach
35	chr7:38851600-38857600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:38851600-38867000	Weak transcription	Gastric	stomach
37	chr7:38851800-38862200	Weak transcription	K562	blood
38	chr7:38852000-38857200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:38852600-38860800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:38852800-38857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:38852800-38858600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:38852800-38858800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:38853000-38857000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:38853000-38861000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:38853000-38863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:38853200-38859400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:38853400-38860800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:38853600-38859600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:38853800-38857200	Weak transcription	A549	lung
50	chr7:38854000-38858200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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